Allele Registry

Canonical Allele Identifier: PA277928

Gene: BSCL2 HGNC NCBI

ClinVar RCV:

RCV000004797

RCV003311642

RCV003581554

ClinVar Variation:

4539

HGVS (amino-acid)	Matching Registered Transcripts
NP_001116427.1:p.Ala276Pro	CA277926 NM_001122955.4:c.826G>C