ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829812706
Gene: VPS13A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
367407
ClinVar RCV Id:
RCV000343290
RCV001416506
RCV003957876
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056001.1:p.Glu2360Lys
CA5093209
NM_015186.4:c.7078G>A