ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1950112378
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.6318918C= , CM000673.2:g.6318918C=
GRCh38
NC_000011.9:g.6340148C= , CM000673.1:g.6340148C=
GRCh37
NC_000011.8:g.6296724C=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_930997.1:n.720+698C=
Search 100 bp 5'
Search 100 bp 3'