ClinGen Allele Registry
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Canonical Allele Identifier:
CA1880834224
Gene:
Linked Data
dbSNP Id:
rs757058618
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.129576723C>G , CM000671.2:g.129576723C>G
GRCh38
NC_000009.11:g.132339002C>G , CM000671.1:g.132339002C>G
GRCh37
NC_000009.10:g.131378823C>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_930390.1:n.182+1125C>G
Search 100 bp 5'
Search 100 bp 3'