Canonical Allele Identifier: PA2828072054
Gene: GDAP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 216706
ClinVar RCV Id: RCV000198483 RCV002261007
ClinVar Variation Id: 834186
ClinVar RCV Id: RCV001034819
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349860.1:p.Ser57Arg
CA337950
NM_001362931.2:c.169A>C
CA371499352
NM_001362931.2:c.171T>A
CA371499353
NM_001362931.2:c.171T>G