ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA102278
Gene: VPS13B
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000002955
RCV000081920
RCV000513475
RCV002313703
ClinVar Variation:
2821
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060360.3:p.Asn2993Ser
CA090981
NM_017890.5:c.8978A>G