Canonical Allele Identifier: PA2580058242
Gene: HMBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000181.2:p.Gln356His
CA382900106
NM_000190.4:c.1068G>C
CA382900111
NM_000190.4:c.1068G>T