Canonical Allele Identifier: PA223445
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 95851
ClinVar RCV Id: RCV000081898 RCV000530711 RCV002311681
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060360.3:p.Thr1289Ser
CA223442
NM_017890.5:c.3866C>G
CA371867053
NM_017890.5:c.3865A>T