ClinGen Allele Registry
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Canonical Allele Identifier:
CA2838354454
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.111430208T>A , CM000675.2:g.111430208T>A
GRCh38
NC_000013.10:g.112082555T>A , CM000675.1:g.112082555T>A
GRCh37
NC_000013.9:g.110880556T>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001750032.1:n.594+18729T>A
Search 100 bp 5'
Search 100 bp 3'