Canonical Allele Identifier: PA2580059244
Gene: HMBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000181.2:p.Asn349Lys
CA382899965
NM_000190.4:c.1047C>A
CA382899966
NM_000190.4:c.1047C>G