Canonical Allele Identifier: PA2826454827
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_001245137.1:p.Trp243Cys
CA382898741
NM_001258208.2:c.729G>T
CA382898743
NM_001258208.2:c.729G>C