Canonical Allele Identifier: PA248242
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 199176
ClinVar RCV Id: RCV000271246 RCV000328674 RCV000657059 RCV001001623 RCV001087807 RCV001847821 RCV002444724
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001116427.1:p.Pro367Leu
CA248240
NM_001122955.4:c.1100C>T