ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825324622
Gene: VPS13A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
313392
ClinVar RCV:
RCV000306726
RCV000866730
RCV002523812
ClinVar Variation:
367392
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001018048.1:p.Asn1929Ser
CA5092850
NM_001018038.3:c.5786A>G