ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3070933053
Gene: BHMT
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001704.2:p.Arg239Gln
CA3319675
NM_001713.3:c.716G>A