ClinGen Allele Registry
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Canonical Allele Identifier:
CA1181633444
Gene:
Linked Data
dbSNP Id:
rs1652355997
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.94563967T>C , CM000663.2:g.94563967T>C
GRCh38
NC_000001.10:g.95029523T>C , CM000663.1:g.95029523T>C
GRCh37
NC_000001.9:g.94802111T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001738161.1:n.461+354T>C
Search 100 bp 5'
Search 100 bp 3'