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Canonical Allele Identifier: Get Identifier
Gene: SFTPC HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000429552.1:p.Ile144_Ter145insTyrAspAlaSerGlySerValGluAlaProThrGlyLysGluThrProArgAlaLysGlyLeuLeuGlnLeuLeuGlnThrGlyLysLysLeuLeuLeuProThrProGlnGlyGlnAlaLeuGluLysTrpGluLeuGlyGluArgMetGlyValGlyArgGlyGlyAlaGlnGlyProGlyAsnSerCysHisAsnArgIleLysGlnProAsp
CA4664085
ENST00000524255.5:c.435G>C
CA370538505
ENST00000524255.5:c.435G>T