ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645463614
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_150648.2:p.Asn1929Ser
CA5092850
NM_033305.3:c.5786A>G