ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1704517755
Gene:
Linked Data
dbSNP Id:
rs1784762319
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.46032915G>A , CM000669.2:g.46032915G>A
GRCh38
NC_000007.13:g.46072513G>A , CM000669.1:g.46072513G>A
GRCh37
NC_000007.12:g.46039038G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001745203.1:n.1270-3703G>A
Search 100 bp 5'
Search 100 bp 3'