Canonical Allele Identifier: PA2580054350
Gene: HMBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000181.2:p.Val224Leu
CA382897191
NM_000190.4:c.670G>C
CA382897196
NM_000190.4:c.670G>T