Canonical Allele Identifier: PA2828071814
Gene: GDAP1 HGNC NCBI
ClinVar RCV:
RCV003811810
ClinVar Variation:
2959635
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349859.1:p.His82Arg
CA371499517
NM_001362930.2:c.245A>G