ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1468684085
Gene:
Linked Data - NCBI & NCI
dbSNP:
9996584
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.74556244A>C , CM000666.2:g.74556244A>C
GRCh38
NC_000004.11:g.75421961A>C , CM000666.1:g.75421961A>C
GRCh37
Transcript Alleles
HGVS
Amino-acid Change
XR_001741513.1:n.167-3412T>G
Search 100 bp 5'
Search 100 bp 3'