ClinGen Allele Registry
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Canonical Allele Identifier:
CA2156233152
Community Standard Title: NC_000014.9:g.94944192C=
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.94944192C= , CM000676.2:g.94944192C=
GRCh38
NC_000014.8:g.95410529C= , CM000676.1:g.95410529C=
GRCh37
NC_000014.7:g.94480282C=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001750935.1:n.500-263G=
Search 100 bp 5'
Search 100 bp 3'