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Canonical Allele Identifier: Get Identifier
Gene: HMBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000444730.1:p.[Asp44_Ile46delinsThrArgPhe;Asp48_Leu51delinsIleLeuHis;Lys53_Gly55delinsLeuArgLeu;Glu56_Lys57insArg;Ser58_Glu63delinsAlaCysLeuProArgSer;Glu65_Val73delinsAsnMetProTrpArgArgMetLysTrp]
CA2695215719
ENST00000537841.5:c.130del