ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA14400200
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.34253212T>A , CM000679.2:g.34253212T>A
GRCh38
NC_000017.10:g.32580231T>A , CM000679.1:g.32580231T>A
GRCh37
NC_000017.9:g.29604344T>A
NCBI36
NG_012123.1:g.2936T>A
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