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Canonical Allele Identifier: Get Identifier
Gene: SFTPC HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001372588.1:p.Ile191_Ter192insTrpAspAlaSerGlyGluGlnGlyGlnTrpLysProGlnArgGluArgLysArgProGlyGlnArgValPheCysSerPheCysArgArgAlaArgSerCysPheCysProHisArgArgAspLysProTrpArgAsnGlySerLeuGlyArgGlyTrpGluTrpAlaGluValAlaProArgGlyProGlyThrProAlaThrThrGlu
CA4664084
NM_001385659.1:c.575A>G