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Canonical Allele Identifier: Get Identifier
Gene: HMBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000181.2:p.[Glu250_Arg251del;Phe253Ser;Arg255_Glu258delinsLys;Gly260_Cys261delinsPro;Val263_Asp273del;Gln275_Thr279del;Gly281del]
CA2695215841
NM_000190.4:c.741_748dup