ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1561475019
Gene:
Linked Data - NCBI & NCI
dbSNP:
2032794
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.87136800T>G , CM000667.2:g.87136800T>G
GRCh38
NC_000005.9:g.86432617T>G , CM000667.1:g.86432617T>G
GRCh37
NC_000005.8:g.86468373T>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_105018.1:n.48-654T>G
Search 100 bp 5'
Search 100 bp 3'