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Canonical Allele Identifier: Get Identifier
Gene: BBS2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000507839.1:p.[Val124Leu;Gly126_Leu128delinsPheLeuGlyAla;Ser132_Gly151delinsGlyArgHisPhePheProSerCysAspTyrTrpTrpGlnLeuCysSerAlaArgPheGln;Asp153del]
CA2224178604
ENST00000683212.1:c.369_370insTTACTTTTCTTAG