ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1740470181
Gene:
Linked Data
dbSNP Id:
rs1795647441
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.124306482C>T , CM000669.2:g.124306482C>T
GRCh38
NC_000007.13:g.123946536C>T , CM000669.1:g.123946536C>T
GRCh37
NC_000007.12:g.123733772C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_002956584.1:n.77C>T
Search 100 bp 5'
Search 100 bp 3'