ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA219000146
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.21647747G>A , CM000673.2:g.21647747G>A
GRCh38
NC_000011.9:g.21669293G>A , CM000673.1:g.21669293G>A
GRCh37
NC_000011.8:g.21625869G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001748150.1:n.585C>T
Search 100 bp 5'
Search 100 bp 3'