ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1044218899
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.67310A>T , CM000665.2:g.67310A>T
GRCh38
NC_000003.11:g.108993A>T , CM000665.1:g.108993A>T
GRCh37
NC_000003.10:g.83993A>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_940532.1:n.81-7106T>A
XR_940533.1:n.396-15A>T
Search 100 bp 5'
Search 100 bp 3'