ClinGen Allele Registry
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Canonical Allele Identifier:
PA658670142
Gene: VPS13A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000517783
RCV001851475
RCV002481690
ClinVar Variation:
448872
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_150648.2:p.His2742Arg
CA5093583
NM_033305.3:c.8225A>G