Allele Registry

Canonical Allele Identifier: PA094994

Gene: BSCL2 HGNC NCBI

ClinVar RCV:

RCV000004797

RCV003311642

RCV003581554

ClinVar Variation:

4539

HGVS (amino-acid)	Matching Registered Transcripts
NP_116056.3:p.Ala212Pro	CA277926 NM_032667.6:c.634G>C