ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915983839
Gene: HMBS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245137.1:p.Arg173Trp
CA229595374
NM_001258208.2:c.517C>T