ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2383342513
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.25454202T>A , CM000683.2:g.25454202T>A
GRCh38
NC_000021.8:g.26826514T>A , CM000683.1:g.26826514T>A
GRCh37
NC_000021.7:g.25748385T>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_937615.1:n.78-776A>T
Search 100 bp 5'
Search 100 bp 3'