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Canonical Allele Identifier: Get Identifier
Gene: SFTPC HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003009.2:p.Ile197_Ter198insTyrAspAlaSerGlyGluGlnGlyGlnTrpLysProGlnArgGluArgLysArgProGlyGlnArgValPheCysSerPheCysArgArgAlaArgSerCysPheCysProHisArgArgAspLysProTrpArgAsnGlySerLeuGlyArgGlyTrpGluTrpAlaGluValAlaProArgGlyProGlyThrProAlaThrThrGlu
CA4664085
NM_003018.4:c.594G>C
CA370538505
NM_003018.4:c.594G>T