Canonical Allele Identifier: PA2830087609
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 567295
ClinVar RCV Id: RCV000687331 RCV002493153
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_116056.3:p.Pro194Leu
CA6053454
NM_032667.6:c.581C>T