Canonical Allele Identifier: PA1139676369
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 952139
ClinVar RCV Id: RCV001224190 RCV002261311
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001116427.1:p.Arg279Cys
CA6053441
NM_001122955.4:c.835C>T