ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573093531
Gene: VPS13D
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060626.2:p.Val2807Met
CA338487344
NM_018156.4:c.8419G>A