Canonical Allele Identifier: PA2580054318
Gene: HMBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000181.2:p.Val237Leu
CA382897580
NM_000190.4:c.709G>C
CA382897581
NM_000190.4:c.709G>T