ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829870719
Gene: VPS13C
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060154.3:p.Arg931Lys
CA7596551
NM_017684.5:c.2792G>A