ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA13185253
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.23080492C>T , CM000672.2:g.23080492C>T
GRCh38
NC_000010.10:g.23369421C>T , CM000672.1:g.23369421C>T
GRCh37
NC_000010.9:g.23409427C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001747394.1:n.461-10924G>A
Search 100 bp 5'
Search 100 bp 3'