ClinGen Allele Registry
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Canonical Allele Identifier:
CA2471090064
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.21282085G= , CM000686.2:g.21282085G=
GRCh38
NC_000024.9:g.23443971G= , CM000686.1:g.23443971G=
GRCh37
NC_000024.8:g.21853359G=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001756079.1:n.213+14070C=
Search 100 bp 5'
Search 100 bp 3'