Canonical Allele Identifier: PA2825588127
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1694051
ClinVar RCV Id: RCV002261920 RCV003382874
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001116427.1:p.Val257Leu
CA380962350
NM_001122955.4:c.769G>T
CA380962353
NM_001122955.4:c.769G>C