ClinGen Allele Registry
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Canonical Allele Identifier:
CA2718182989
Gene:
Linked Data
dbSNP Id:
rs2129881150
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.125478603G>A , CM000670.2:g.125478603G>A
GRCh38
NC_000008.10:g.126490845G>A , CM000670.1:g.126490845G>A
GRCh37
NC_000008.9:g.126560027G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_928628.1:n.256+5289G>A
Search 100 bp 5'
Search 100 bp 3'