Canonical Allele Identifier: PA2829037264
Gene: SFTPC HGNC NCBI

Linked Data

ClinVar Variation Id: 1040401
ClinVar RCV Id: RCV001344035

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001372585.1:p.Ile191_Ter192insGlnAspAlaSerGlyGluGlnVal
CA370538501
NM_001385656.1:c.574T>C