Allele Registry

Canonical Allele Identifier: PA2580059260

Gene: HMBS HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_000181.2:p.Asn340Lys	CA382899773 NM_000190.4:c.1020C>G CA382899788 NM_000190.4:c.1020C>A