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Canonical Allele Identifier: Get Identifier
Gene: HMBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000445429.1:p.[Gln297_Asn302delinsValGlyCysProGlu;Ile305_Asn309delinsHisGlnProGlyGln;Leu311_Leu326delinsValAlaGluGlnArgSerGlnLysHisProGlyCysCysThrAlaAla]
CA2499220803
ENST00000543090.5:c.889_890del