Canonical Allele Identifier: PA2825333214
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 945451
ClinVar RCV Id: RCV001216096
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019553.1:p.Arg234Ser
CA6314171
NM_001024382.2:c.702G>C
CA382897962
NM_001024382.2:c.702G>T