ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1318364595
Gene:
Linked Data - NCBI & NCI
dbSNP:
4591358
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.195501166T>G , CM000664.2:g.195501166T>G
GRCh38
NC_000002.11:g.196365890T>G , CM000664.1:g.196365890T>G
GRCh37
NC_000002.10:g.196074135T>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001739836.1:n.427+45325A>C
Search 100 bp 5'
Search 100 bp 3'