ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828071645
Gene: GDAP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4203
ClinVar RCV Id:
RCV000004423
RCV003447066
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349858.1:p.Cys131Tyr
CA253044
NM_001362929.2:c.392G>A