Canonical Allele Identifier: PA205520
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 210545
ClinVar RCV Id: RCV000192598 RCV001083233 RCV001174400 RCV000766869 RCV002467651 RCV002433863 RCV003884385
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001116427.1:p.Ser344Phe
CA205518
NM_001122955.4:c.1031C>T