ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829358472
Gene: CFHR1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002104.2:p.Glu175Gln
CA1306510
NM_002113.3:c.523G>C