Canonical Allele Identifier: PA251837
Gene: HMBS HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_001019553.1:p.His239Asn
NM_001024382.2:c.[709del;711G>T;713G>C;71...

NM_001024382.2:c.715C>A