Canonical Allele Identifier: PA2830087592
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2510841
ClinVar RCV Id: RCV003240265

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_116056.3:p.Ser191Leu
CA6053482
NM_032667.6:c.572C>T