ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA12876765
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.20768810G>A , CM000670.2:g.20768810G>A
GRCh38
NC_000008.10:g.20626321G>A , CM000670.1:g.20626321G>A
GRCh37
NC_000008.9:g.20670601G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_949569.3:n.72-21636G>A
Search 100 bp 5'
Search 100 bp 3'