Canonical Allele Identifier: PA2828072358
Gene: GDAP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4195
ClinVar RCV Id: RCV000004415 RCV000235864 RCV001235354 RCV002504741
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349861.1:p.Arg173Cys
CA116688
NM_001362932.2:c.517C>T