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Canonical Allele Identifier: Get Identifier
Gene: BBS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000436927.1:p.[Ala49Pro;Glu51_Asp52del;Ile54_Leu57del;Leu59_Lys60del;Met62_Ile66delinsSerThrPro]
CA2695214784
ENST00000524705.2:c.145del