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Canonical Allele Identifier: Get Identifier
Gene: HMBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011541098.1:p.[Ile193Phe;Glu195_Arg196del;Phe198Ser;Arg200_Glu203delinsLys;Gly205_Cys206delinsPro;Val208_Tyr222del]
CA913190125
XM_011542796.1:c.569_576dup