Canonical Allele Identifier: PA2825333045
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 715912
ClinVar RCV Id: RCV000888463 RCV001104609
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019553.1:p.Ser28Leu
CA6313913
NM_001024382.2:c.83C>T