Canonical Allele Identifier: PA2580058736
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 652314
ClinVar RCV Id: RCV000807846 RCV002249519
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000181.2:p.Gln204His
CA382895027
NM_000190.4:c.612G>C
CA382895036
NM_000190.4:c.612G>T