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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:
CA610519407
Gene:
Linked Data
dbSNP Id:
rs1566242844
gnomAD v2:
13-71249545-A-ATATATATATATATTTTATATATATATTT
gnomAD v3:
13-70675413-A-ATATATATATATATTTTATATATATATTT
gnomAD v4:
13-70675413-A-ATATATATATATATTTTATATATATATTT
MyVariant Identifiers:
chr13:g.71249560_71249561insTATATATATATTTTATATATATATATTT (hg19)
chr13:g.70675428_70675429insTATATATATATTTTATATATATATATTT (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.70675427_70675454dup , CM000675.2:g.70675427_70675454dup
GRCh38
NC_000013.10:g.71249559_71249586dup , CM000675.1:g.71249559_71249586dup
GRCh37
NC_000013.9:g.70147560_70147587dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'