ClinGen Allele Registry
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Canonical Allele Identifier:
CA2111985000
Community Standard Title: NC_000013.11:g.94811138C=
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.94811138C= , CM000675.2:g.94811138C=
GRCh38
NC_000013.10:g.95463392C= , CM000675.1:g.95463392C=
GRCh37
NC_000013.9:g.94261393C=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_110754.1:n.256+46587C=
Search 100 bp 5'
Search 100 bp 3'