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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:
CA2493476468
Gene: APOB
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.21009931_21009932delinsTG , CM000664.2:g.21009931_21009932delinsTG
GRCh38
NC_000002.11:g.21232803_21232804delinsTG , CM000664.1:g.21232803_21232804delinsTG
GRCh37
NC_000002.10:g.21086308_21086309delinsTG
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000233242.5:c.6936_6937delinsCA
MANE Select
ENSP00000233242.1:p.Asp2312=
ENST00000616098.4:c.6936_6937delinsCA
ENSP00000477990.1:p.Asp2312=
XM_011532809.1:c.5869+801_5869+802delinsCA
XP_011531111.1:n.5869+801_5869+802delinsC...
NM_000384.3:c.6936_6937delinsCA
MANE Select
NP_000375.3:p.Asp2312=
Search 100 bp 5'
Search 100 bp 3'