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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2493474861
Gene: APOB
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.21006582_21006583delinsGT , CM000664.2:g.21006582_21006583delinsGT
GRCh38
NC_000002.11:g.21229454_21229455delinsGT , CM000664.1:g.21229454_21229455delinsGT
GRCh37
NC_000002.10:g.21082959_21082960delinsGT
NCBI36
NG_011793.1:g.42491_42492delinsAC
Transcript Alleles
HGVS
Amino-acid change
ENST00000233242.5:c.10285_10286delinsAC
MANE Select
ENSP00000233242.1:p.Thr3429=
ENST00000616098.4:c.10285_10286delinsAC
ENSP00000477990.1:p.Thr3429=
NM_000384.2:c.10285_10286delinsAC
NP_000375.2:p.Thr3429=
XM_011532809.1:c.5869+4150_5869+4151delinsAC
XP_011531111.1:n.5869+4150_5869+4151delin...
NM_000384.3:c.10285_10286delinsAC
MANE Select
NP_000375.3:p.Thr3429=
Search 100 bp 5'
Search 100 bp 3'