ClinGen Allele Registry
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Canonical Allele Identifier:
CA200491576
Gene:
Linked Data
dbSNP Id:
rs757058618
MyVariant Identifiers:
chr9:g.132339002C>T (hg19)
chr9:g.129576723C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.129576723C>T , CM000671.2:g.129576723C>T
GRCh38
NC_000009.11:g.132339002C>T , CM000671.1:g.132339002C>T
GRCh37
NC_000009.10:g.131378823C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_930390.1:n.182+1125C>T
Search 100 bp 5'
Search 100 bp 3'