Canonical Allele Identifier: PA2826970632
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_001304709.1:p.Ile191_Ter192insGlnAspAlaSerGlySerValGluAlaProThrGlyLysGluThrProArgAlaLysGlyLeuLeuGlnLeuLeuGlnThrGlyLysLysLeuLeuLeuProThrProGlnGlyGlnAlaLeuGluLysTrpGluLeuGlyGluArgMetGlyValGlyArgGlyGlyAlaGlnGlyProGlyAsnSerCysHisAsnArgIleLysGlnProAsp
CA370538501
NM_001317780.2:c.574T>C