ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499260481
Gene: CFHR1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002104.2:p.Gln242Glu
CA1306565
NM_002113.3:c.724C>G