Canonical Allele Identifier: PA2580421383
Gene: VPS13D HGNC NCBI
ClinVar RCV:
RCV002607867
ClinVar Variation:
2193205
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060626.2:p.Ser81Phe
CA18075272
NM_018156.4:c.242C>T