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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.[Pro191_Glu193delinsLeuArgAsnAla;Tyr196delinsLeuTrp;Val198Arg;Gln200_Gly201delinsProTrp;Leu203_Val205delinsTrpLysCys;Val207Pro;Ala209_Asp213delinsThrArgThrSerTrp;Leu215_Leu217delinsTrpTrp;Gly219_Val220delinsCys]
CA2573146996
ENST00000537841.5:c.572del