Canonical Allele Identifier: PA2580055760
Gene: HMBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000181.2:p.Met271Ile
CA382898446
NM_000190.4:c.813G>A
CA382898448
NM_000190.4:c.813G>T
CA382898451
NM_000190.4:c.813G>C