Canonical Allele Identifier: PA2580058397
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_000181.2:p.Cys211Ser
CA382896719
NM_000190.4:c.631T>A
CA382896745
NM_000190.4:c.632G>C