ClinGen Allele Registry
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Canonical Allele Identifier:
CA1940857425
Community Standard Title: NC_000010.11:g.121148705T=
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.121148705T= , CM000672.2:g.121148705T=
GRCh38
NC_000010.10:g.122908219T= , CM000672.1:g.122908219T=
GRCh37
NC_000010.9:g.122898209T=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_946379.1:n.286-3343T=
XR_946379.2:n.357-3343T=
Search 100 bp 5'
Search 100 bp 3'