ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580055936
Gene: HMBS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000181.2:p.Lys348Gln
CA382899929
NM_000190.4:c.1042A>C