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Canonical Allele Identifier: Get Identifier
Gene: ABCA3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001080.2:p.[His1572_Gln1589delinsThrAlaTrpArgSerValArgProCysAlaProGlyTrpProSerTrpCysArg;Gln1591_Ser1597delinsSerSerSerAlaTrpAlaAla;Gln1599_Leu1601delinsSerThrSer]
CA2631187603
NM_001089.3:c.4714del