ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1098940694
Gene:
Linked Data
dbSNP Id:
rs1583893701
gnomAD v3:
7-17957865-T-C
gnomAD v4:
7-17957865-T-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.17957865T>C , CM000669.2:g.17957865T>C
GRCh38
NC_000007.13:g.17997488T>C , CM000669.1:g.17997488T>C
GRCh37
NC_000007.12:g.17964013T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_927078.1:n.271-805T>C
Search 100 bp 5'
Search 100 bp 3'