ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645463573
Gene: VPS13A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
367364
ClinVar RCV Id:
RCV000347795
RCV000518783
RCV001562536
RCV002523807
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_150648.2:p.Ser734Asn
CA5091890
NM_033305.3:c.2201G>A