Canonical Allele Identifier: PA2499284056
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 1217350
ClinVar RCV Id: RCV001588013
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060360.3:p.Met4011Ile
CA4825380
NM_017890.5:c.12033G>C
CA371796191
NM_017890.5:c.12033G>A
CA371796194
NM_017890.5:c.12033G>T