Canonical Allele Identifier: PA2828071891
Gene: GDAP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4202
ClinVar RCV Id: RCV000004422 RCV000214299 RCV000703370 RCV000857208 RCV002362563
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349859.1:p.Pro173Leu
CA253042
NM_001362930.2:c.518C>T