ClinGen Allele Registry
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Canonical Allele Identifier:
CA89721294
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.190286521G>A , CM000665.2:g.190286521G>A
GRCh38
NC_000003.11:g.190004310G>A , CM000665.1:g.190004310G>A
GRCh37
NC_000003.10:g.191487004G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001741069.1:n.89-3957G>A
Search 100 bp 5'
Search 100 bp 3'