Canonical Allele Identifier: PA2825588065
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 246599
ClinVar RCV Id: RCV000236421 RCV000280085 RCV000342082 RCV001080694 RCV002450739
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001116427.1:p.Val150Ile
CA6053569
NM_001122955.4:c.448G>A