Allele Registry

Canonical Allele Identifier: PA2830087569

Gene: BSCL2 HGNC NCBI

ClinVar RCV:

RCV000236915

RCV000269156

RCV000366070

RCV001086940

RCV002347931

ClinVar Variation:

246574

HGVS (amino-acid)	Matching Registered Transcripts
NP_116056.3:p.Ala185Thr	CA6053484 NM_032667.6:c.553G>A