ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825324028
Gene: VPS13A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
367364
ClinVar RCV Id:
RCV000347795
RCV000518783
RCV001562536
RCV002523807
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001018048.1:p.Ser734Asn
CA5091890
NM_001018038.3:c.2201G>A