ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828062327
Gene: CHM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349446.1:p.Thr318Ala
CA413789278
NM_001362517.1:c.952A>G