ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1098940687
Gene:
Linked Data
dbSNP Id:
rs1803285696
gnomAD v3:
7-17957849-C-G
gnomAD v4:
7-17957849-C-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.17957849C>G , CM000669.2:g.17957849C>G
GRCh38
NC_000007.13:g.17997472C>G , CM000669.1:g.17997472C>G
GRCh37
NC_000007.12:g.17963997C>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_927078.1:n.271-821C>G
Search 100 bp 5'
Search 100 bp 3'