ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1521643555
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.189720016T= , CM000666.2:g.189720016T=
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
XR_939636.1:n.401-1758A=
XR_001741965.1:n.1952+1190A=
Search 100 bp 5'
Search 100 bp 3'