Canonical Allele Identifier: PA2580055920
Gene: HMBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000181.2:p.Lys43Asn
CA382888480
NM_000190.4:c.129A>C
CA382888481
NM_000190.4:c.129A>T