ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829906211
Gene: VPS53
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060759.2:p.Gln666Arg
CA163215
NM_018289.4:c.1997A>G