Canonical Allele Identifier: PA2825588121
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2698778
ClinVar RCV Id: RCV003582211

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001116427.1:p.Asp250Asn
CA380962568
NM_001122955.4:c.748G>A