ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499286776
Gene: VPS13C
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065872.1:p.Arg974Lys
CA7596551
NM_020821.3:c.2921G>A