ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1905919978
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.43318556C= , CM000672.2:g.43318556C=
GRCh38
NC_000010.10:g.43814004C= , CM000672.1:g.43814004C=
GRCh37
NC_000010.9:g.43134010C=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_945902.1:n.69C=
XR_945902.2:n.159C=
Search 100 bp 5'
Search 100 bp 3'