Canonical Allele Identifier: PA2573164355
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1553095
ClinVar RCV Id: RCV002197184
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000181.2:p.Arg246Cys
CA6314166
NM_000190.4:c.736C>T