ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3057218546
Gene: HMBS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245138.1:p.Leu160Pro
CA382894304
NM_001258209.2:c.479T>C