ClinGen Allele Registry
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Canonical Allele Identifier:
CA2485026915
Gene:
Linked Data
dbSNP Id:
rs1703722726
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.211379590C>A , CM000663.2:g.211379590C>A
GRCh38
NC_000001.10:g.211552932C>A , CM000663.1:g.211552932C>A
GRCh37
NC_000001.9:g.209619555C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001738446.1:n.292-2474G>T
Search 100 bp 5'
Search 100 bp 3'