ClinGen Allele Registry
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Canonical Allele Identifier:
CA1308342377
Gene:
Linked Data - NCBI & NCI
dbSNP:
13028485
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.173640196G>T , CM000664.2:g.173640196G>T
GRCh38
NC_000002.11:g.174504924G>T , CM000664.1:g.174504924G>T
GRCh37
NC_000002.10:g.174213170G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001739793.1:n.99-52488G>T
Search 100 bp 5'
Search 100 bp 3'