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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:
CA543840924
Gene:
Linked Data
dbSNP Id:
rs1355610122
gnomAD v2:
3-70626255-TCACAC-T
gnomAD v3:
3-70577104-TCACAC-T
gnomAD v4:
3-70577104-TCACAC-T
MyVariant Identifiers:
chr3:g.70626256_70626260del (hg19)
chr3:g.70577105_70577109del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.70577105_70577109del , CM000665.2:g.70577105_70577109del
GRCh38
NC_000003.11:g.70626256_70626260del , CM000665.1:g.70626256_70626260del
GRCh37
NC_000003.10:g.70708946_70708950del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_940947.1:n.407-1156_407-1152del
XR_001740559.1:n.367-1156_367-1152del
Search 100 bp 5'
Search 100 bp 3'