ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825323064
Gene: VPS13A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
367395
ClinVar RCV Id:
RCV000310297
RCV000710282
RCV001729570
RCV003912583
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001018047.1:p.Arg1923Cys
CA5092885
NM_001018037.2:c.5767C>T