ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1985860008
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.80851814A= , CM000673.2:g.80851814A=
GRCh38
NC_000011.9:g.80562857A= , CM000673.1:g.80562857A=
GRCh37
NC_000011.8:g.80240505A=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_247272.2:n.124+60477T=
Search 100 bp 5'
Search 100 bp 3'