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Canonical Allele Identifier: Get Identifier
Gene: BBS12 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171478.1:p.[Thr336_Glu348delinsMet;Gln350_Asn351delinsCys;Pro353_Arg355delinsTyrLeu;Val357_Leu358del;Glu360_Asp362del;Thr364_Glu365del]
CA554527003
NM_001178007.2:c.1007del