Canonical Allele Identifier: PA2829037067
Gene: SFTPC HGNC NCBI

Linked Data

ClinVar Variation Id: 1040401
ClinVar RCV Id: RCV001344035
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001372582.1:p.Ile197_Ter198insGlnAspAlaSerGlyGluGlnValValSerGlySerProAsnGlyLysGlyAsnAlaProGlyLysGlySerPheAlaAlaPheAlaAspGlyGlnGluAlaAlaSerAlaHisThrAlaGlyThrSerProGlyGluMetGlyAlaTrpGlyGluAspGlySerGlyGlnArgTrpArgProGlyAlaArgGluLeuLeuProGlnGlnAsnLysAlaAla
CA370538501
NM_001385653.1:c.592T>C