Canonical Allele Identifier: PA251794
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1445
ClinVar RCV Id: RCV000001510 RCV001212053
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019553.1:p.Arg99Trp
CA251793
NM_001024382.2:c.295C>T