Canonical Allele Identifier: PA2825698848
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2738621
ClinVar RCV Id: RCV003581506

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124174.2:p.Tyr213Ser
CA380962046
NM_001130702.2:c.638A>C