ClinGen Allele Registry
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Canonical Allele Identifier:
CA1827744384
Gene:
Linked Data
dbSNP Id:
rs11998763
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.1787687G>T , CM000671.2:g.1787687G>T
GRCh38
NC_000009.11:g.1787687G>T , CM000671.1:g.1787687G>T
GRCh37
NC_000009.10:g.1777687G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001746599.1:n.142+68775G>T
Search 100 bp 5'
Search 100 bp 3'