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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:
CA43504668
Gene: APOB
HGNC
NCBI
Linked Data
dbSNP Id:
rs1553383615
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.21009931_21009932delinsA , CM000664.2:g.21009931_21009932delinsA
GRCh38
NC_000002.11:g.21232803_21232804delinsA , CM000664.1:g.21232803_21232804delinsA
GRCh37
NC_000002.10:g.21086308_21086309delinsA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000233242.5:c.6936_6937delinsT
MANE Select
ENSP00000233242.1:p.Ile2313PhefsTer10
ENST00000616098.4:c.6936_6937delinsT
ENSP00000477990.1:p.Ile2313PhefsTer10
XM_011532809.1:c.5869+801_5869+802delinsT
XP_011531111.1:n.5869+801_5869+802delinsT...
NM_000384.3:c.6936_6937delinsT
MANE Select
NP_000375.3:p.Ile2313PhefsTer10
Search 100 bp 5'
Search 100 bp 3'