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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:
CA2493476467
Gene: APOB
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.21009930_21009932delinsATG , CM000664.2:g.21009930_21009932delinsATG
GRCh38
NC_000002.11:g.21232802_21232804delinsATG , CM000664.1:g.21232802_21232804delinsATG
GRCh37
NC_000002.10:g.21086307_21086309delinsATG
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000233242.5:c.6936_6938delinsCAT
MANE Select
ENSP00000233242.1:p.Asp2312=
ENST00000616098.4:c.6936_6938delinsCAT
ENSP00000477990.1:p.Asp2312=
XM_011532809.1:c.5869+801_5869+803delinsCAT
XP_011531111.1:n.5869+801_5869+803delinsC...
NM_000384.3:c.6936_6938delinsCAT
MANE Select
NP_000375.3:p.Asp2312=
Search 100 bp 5'
Search 100 bp 3'