Allele Registry

Canonical Allele Identifier: PA2829061822

Gene: BSCL2 HGNC NCBI

ClinVar RCV:

RCV000234334

RCV003352809

ClinVar Variation:

241723

HGVS (amino-acid)	Matching Registered Transcripts
NP_001372957.1:p.Pro430Ser	CA6053260 NM_001386028.1:c.1288C>T