ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499243191
Gene: HMBS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245137.1:p.Leu92Pro
CA382890512
NM_001258208.2:c.275T>C