Canonical Allele Identifier: PA2830316223
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 2091761
ClinVar RCV Id: RCV003015767
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_689777.3:p.Ser2425Arg
CA183041705
NM_152564.5:c.7275C>A
CA371875588
NM_152564.5:c.7273A>C
CA371875594
NM_152564.5:c.7275C>G