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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:
CA605810931
Gene:
Linked Data
dbSNP Id:
rs1309597471
gnomAD v2:
12-72332225-A-AATTT
gnomAD v3:
12-71938445-A-AATTT
gnomAD v4:
12-71938445-A-AATTT
MyVariant Identifiers:
chr12:g.72332225_72332226insATTT (hg19)
chr12:g.71938445_71938446insATTT (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.71938446_71938447insTTTA , CM000674.2:g.71938446_71938447insTTTA
GRCh38
NC_000012.11:g.72332226_72332227insTTTA , CM000674.1:g.72332226_72332227insTTTA
GRCh37
NC_000012.10:g.70618493_70618494insTTTA
NCBI36
NG_008279.1:g.4601_4602insTTTA
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