ClinGen Allele Registry
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Canonical Allele Identifier:
CA13572339
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.81143332C>A , CM000673.2:g.81143332C>A
GRCh38
NC_000011.9:g.80854375C>A , CM000673.1:g.80854375C>A
GRCh37
NC_000011.8:g.80532023C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_247272.2:n.46+109594G>T
Search 100 bp 5'
Search 100 bp 3'