Allele Registry

Canonical Allele Identifier: PA2828229787

Gene: SFTPB HGNC NCBI

ClinVar RCV:

RCV000151850

RCV000263751

RCV001723716

RCV002326870

ClinVar Variation:

165204

HGVS (amino-acid)	Matching Registered Transcripts
NP_001354210.1:p.Thr131Ile	CA177942 NM_001367281.1:c.392C>T