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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.[Leu189_Val191delinsTrpLysCys;Val193Pro;Ala195_Asp199delinsThrArgThrSerTrp;Leu201_Leu203delinsTrpTrp;Gly205_Asp209delinsCysCysThrIle;Glu211_Thr212delinsArg;Leu214_Arg220delinsCysPheAlaAlaSerLeuLys]
CA2695215825
ENST00000543090.5:c.564_570del