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Canonical Allele Identifier: Get Identifier
Gene: HMBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000278715.3:p.[Thr243_Arg246delinsIle;Ile248Phe;Glu250_Arg251del;Phe253Ser;Arg255_Glu258delinsLys;Gly260_Cys261delinsPro;Val263_Lys272del]
CA2695215838
ENST00000278715.7:c.728del