Canonical Allele Identifier: PA2826454813
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_001245137.1:p.Cys211Ser
CA382896719
NM_001258208.2:c.631T>A
CA382896745
NM_001258208.2:c.632G>C