Canonical Allele Identifier: PA2828072315
Gene: GDAP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4200
ClinVar RCV Id: RCV000004420 RCV000034153 RCV000033147 RCV000439841 RCV000414821 RCV000779562 RCV000789780 RCV002362562 RCV002496254
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349861.1:p.Leu130Phe
CA116689
NM_001362932.2:c.388C>T