Canonical Allele Identifier: PA2830087996
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 411580
ClinVar RCV Id: RCV000460819 RCV002266964 RCV001836825 RCV002323748
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_116056.3:p.Ala388Ser
CA16613434
NM_032667.6:c.1162G>T