ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1937375696
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.113475355T= , CM000672.2:g.113475355T=
GRCh38
NC_000010.10:g.115235114T= , CM000672.1:g.115235114T=
GRCh37
NC_000010.9:g.115225104T=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001747590.2:n.6093-1219T=
Search 100 bp 5'
Search 100 bp 3'