Canonical Allele Identifier: PA2830315927
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 1480333
ClinVar RCV Id: RCV001991271
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_689777.3:p.Trp2193Cys
CA4824032
NM_152564.5:c.6579G>T
CA371867339
NM_152564.5:c.6579G>C