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Canonical Allele Identifier: Get Identifier
Gene: HMBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000498786.1:p.[Val103_Gly111del;Ile113His;Lys115_Pro119delinsAlaSerSerTrpLeu;Asp121_Phe125delinsHisArgSer;Pro127_Val130delinsLeuGlnAla;Lys132_Thr133insProSer]
CA2695215749
ENST00000652429.1:c.301_307dup