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Canonical Allele Identifier: Get Identifier
Gene: BBS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_078925.3:p.[Glu337_Ala348delinsSerSerIleProGlyAlaCysArgProSerTrpLeu;Leu350_Val366delinsTrpProMetGluArgSerAlaPheIleValThrArgProCysSerMetSer]
CA2580084543
NM_024649.5:c.1009del