Canonical Allele Identifier: PA915959210
Gene: GDAP1 HGNC NCBI
ClinVar RCV:
RCV000171416
ClinVar Variation:
191228
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001035808.1:p.Pro76Leu
CA236305
NM_001040875.4:c.227C>T