Canonical Allele Identifier: PA2741875580
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2698778
ClinVar RCV Id: RCV003582211

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001372957.1:p.Asp250Asn
CA380962568
NM_001386028.1:c.748G>A