ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1522881422
Gene:
Linked Data - NCBI & NCI
dbSNP:
12653946
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.1895715C>A , CM000667.2:g.1895715C>A
GRCh38
NC_000005.9:g.1895829C>A , CM000667.1:g.1895829C>A
GRCh37
NC_000005.8:g.1948829C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_109912.1:n.110-2330C>A
Search 100 bp 5'
Search 100 bp 3'