ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1689284705
Gene:
Linked Data
dbSNP Id:
rs1780381877
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.13514231G>A , CM000669.2:g.13514231G>A
GRCh38
NC_000007.13:g.13553856G>A , CM000669.1:g.13553856G>A
GRCh37
NC_000007.12:g.13520381G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001745097.1:n.148-188085G>A
Search 100 bp 5'
Search 100 bp 3'