Allele Registry

Canonical Allele Identifier: PA916061193

Gene: SFTPB HGNC NCBI

ClinVar RCV:

RCV000151850

RCV000263751

RCV001723716

RCV002326870

ClinVar Variation:

165204

HGVS (amino-acid)	Matching Registered Transcripts
NP_942140.3:p.Thr131Ile	CA177942 NM_198843.3:c.392C>T