ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829819866
Gene: VPS13D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1938926
ClinVar RCV Id:
RCV002646596
RCV003167566
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056193.2:p.Arg347Cys
CA601407
NM_015378.4:c.1039C>T