ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA11393963
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.67310A>G , CM000665.2:g.67310A>G
GRCh38
NC_000003.11:g.108993A>G , CM000665.1:g.108993A>G
GRCh37
NC_000003.10:g.83993A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_940532.1:n.81-7106T>C
XR_940533.1:n.396-15A>G
Search 100 bp 5'
Search 100 bp 3'