ClinGen Allele Registry
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Canonical Allele Identifier:
CA1558109717
Gene:
Linked Data - NCBI & NCI
dbSNP:
259067
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.79803175C>G , CM000667.2:g.79803175C>G
GRCh38
NC_000005.9:g.79098998C>G , CM000667.1:g.79098998C>G
GRCh37
NC_000005.8:g.79134754C>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_427736.2:n.371+1421C>G
Search 100 bp 5'
Search 100 bp 3'