ClinGen Allele Registry
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Canonical Allele Identifier:
CA315556726
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.45495883A>G , CM000682.2:g.45495883A>G
GRCh38
NC_000020.10:g.44124523A>G , CM000682.1:g.44124523A>G
GRCh37
NC_000020.9:g.43557937A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001754641.2:n.67+8173A>G
Search 100 bp 5'
Search 100 bp 3'