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Canonical Allele Identifier: Get Identifier
Gene: ABCA3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000371818.3:p.[His1514_Gln1531delinsThrAlaTrpArgSerValArgProCysAlaProGlyTrpProSerTrpCysArg;Gln1533_Ser1539delinsSerSerSerAlaTrpAlaAla;Gln1541_Leu1543delinsSerThrSer]
CA2631187603
ENST00000382381.7:c.4540del