Canonical Allele Identifier: PA223440
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 95850
ClinVar RCV Id: RCV000081897 RCV000670690
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060360.3:p.Thr1251Ser
CA223437
NM_017890.5:c.3751A>T
CA371866824
NM_017890.5:c.3752C>G