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