Canonical Allele Identifier: PA2580054380
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 2735770
ClinVar RCV Id: RCV003557676
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000181.2:p.Val215Met
CA382896822
NM_000190.4:c.643G>A