ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580421460
Gene: VPS13D
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060626.2:p.Thr742Met
CA601768
NM_018156.4:c.2225C>T