Canonical Allele Identifier: PA2499284055
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 998539
ClinVar RCV Id: RCV001294411
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060360.3:p.Glu3984Asp
CA4825360
NM_017890.5:c.11952A>C
CA371795854
NM_017890.5:c.11952A>T