ClinGen Allele Registry
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Canonical Allele Identifier:
CA1427629980
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.187931639C= , CM000665.2:g.187931639C=
GRCh38
NC_000003.11:g.187649427C= , CM000665.1:g.187649427C=
GRCh37
NC_000003.10:g.189132121C=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_924814.1:n.1275G=
Search 100 bp 5'
Search 100 bp 3'