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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:
CA909017069
Gene:
Linked Data
dbSNP Id:
rs1407434292
gnomAD v3:
3-61427966-TTCAC-T
gnomAD v4:
3-61427966-TTCAC-T
MyVariant Identifiers:
chr3:g.61413641_61413644del (hg19)
chr3:g.61427967_61427970del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.61427969_61427972del , CM000665.2:g.61427969_61427972del
GRCh38
NC_000003.11:g.61413643_61413646del , CM000665.1:g.61413643_61413646del
GRCh37
NC_000003.10:g.61388683_61388686del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_940892.1:n.165-284_165-281del
XR_940893.1:n.164+544_164+547del
XR_001740725.1:n.202+544_202+547del
XR_940892.2:n.203-284_203-281del
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