Canonical Allele Identifier: PA2826970454
Gene: SFTPC HGNC NCBI

Linked Data

ClinVar Variation Id: 362562
ClinVar RCV Id: RCV000262185 RCV000331564 RCV001431879 RCV002348113
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001304707.1:p.Leu175Val
CA4664075
NM_001317778.2:c.523C>G