ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA163216
Gene: VPS53
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121631.1:p.Gln695Arg
CA163215
NM_001128159.3:c.2084A>G