ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825323790
Gene: VPS13A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
367346
ClinVar RCV Id:
RCV000287997
RCV000518625
RCV003912582
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001018048.1:p.Asn259Asp
CA5091481
NM_001018038.3:c.775A>G