ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828071901
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_001349859.1:p.Cys182Tyr
CA253044
NM_001362930.2:c.545G>A