Canonical Allele Identifier: PA2826970468
Gene: SFTPC HGNC NCBI

Linked Data

ClinVar Variation Id: 1040401
ClinVar RCV Id: RCV001344035
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001304707.1:p.Ile191_Ter192insGlnAspAlaSerGlyGluGlnGlyGlnTrpLysProGlnArgGluArgLysArgProGlyGlnArgValPheCysSerPheCysArgArgAlaArgSerCysPheCysProHisArgArgAspLysProTrpArgAsnGlySerLeuGlyArgGlyTrpGluTrpAlaGluValAlaProArgGlyProGlyThrProAlaThrThrGlu
CA370538501
NM_001317778.2:c.574T>C