ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828820386
Gene: CFHR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001330883
ClinVar Variation:
1029559
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366235.1:p.Asp198Asn
CA1306548
NM_001379306.1:c.592G>A