ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA860367904
Gene:
Linked Data
dbSNP Id:
rs1247273004
gnomAD v3:
9-129576857-C-G
gnomAD v4:
9-129576857-C-G
MyVariant Identifiers:
chr9:g.132339136C>G (hg19)
chr9:g.129576857C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.129576857C>G , CM000671.2:g.129576857C>G
GRCh38
NC_000009.11:g.132339136C>G , CM000671.1:g.132339136C>G
GRCh37
NC_000009.10:g.131378957C>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_930390.1:n.182+1259C>G
Search 100 bp 5'
Search 100 bp 3'