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Canonical Allele Identifier: Get Identifier
Gene: SFTPC HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_006716443.1:p.Ile191_Ter192insTyrAspAlaSerGlySerValGluAlaProThrGlyLysGluThrProArgAlaLysGlyLeuLeuGlnLeuLeuGlnThrGlyLysLysLeuLeuLeuProThrProGlnGlyGlnAlaLeuGluLysTrpGluLeuGlyGluArgMetGlyValGlyArgGlyGlyAlaGlnGlyProGlyAsnSerCysHisAsnArgIleLysGlnProAsp
CA4664085
XM_006716380.2:c.576G>C
CA370538505
XM_006716380.2:c.576G>T