Canonical Allele Identifier: PA2828071552
Gene: GDAP1 HGNC NCBI
ClinVar RCV:
RCV000171416
ClinVar Variation:
191228
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349858.1:p.Pro35Leu
CA236305
NM_001362929.2:c.104C>T