Canonical Allele Identifier: PA2825333231
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 2132220
ClinVar RCV Id: RCV003036632
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019553.1:p.Trp266Cys
CA382898741
NM_001024382.2:c.798G>T
CA382898743
NM_001024382.2:c.798G>C