ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825333225
Gene: HMBS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001019553.1:p.Val250Met
CA16606875
NM_001024382.2:c.748G>A