Canonical Allele Identifier: PA2825333171
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 2759482
ClinVar RCV Id: RCV003564770
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019553.1:p.Cys194Ser
CA382896719
NM_001024382.2:c.580T>A
CA382896745
NM_001024382.2:c.581G>C