Canonical Allele Identifier: PA2499284528
Gene: VPS13D HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060626.2:p.Ser1778Arg
CA602300
NM_018156.4:c.5334T>A
CA338483444
NM_018156.4:c.5332A>C
CA338483449
NM_018156.4:c.5334T>G