Canonical Allele Identifier: PA2830087540
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 581808
ClinVar RCV Id: RCV000705740

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_116056.3:p.Val163Phe
CA380963063
NM_032667.6:c.487G>T