ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825324456
Gene: VPS13A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000517261
RCV000605550
RCV001580041
ClinVar Variation:
448864
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001018048.1:p.Tyr1587Cys
CA5092598
NM_001018038.3:c.4760A>G