ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828062986
Gene: CHM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349448.1:p.Ser297Leu
CA413789582
NM_001362519.1:c.890C>T