ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2514058639
Gene:
Linked Data
gnomAD v4:
17-1400495-C-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.1400495C>T , CM000679.2:g.1400495C>T
GRCh38
NC_000017.10:g.1303789C>T , CM000679.1:g.1303789C>T
GRCh37
NC_000017.9:g.1250539C>T
NCBI36
NG_009233.1:g.4768G>A
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