Canonical Allele Identifier: PA103423
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1471
ClinVar RCV Id: RCV000001536
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000181.2:p.Glu250Lys
CA251830
NM_000190.4:c.748G>A