ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA170970
Gene: CFH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
157562
ClinVar RCV Id:
RCV000144906
RCV001857495
RCV002294043
RCV003453103
RCV003453105
RCV003453104
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000177.2:p.Pro503Ala
CA170968
NM_000186.4:c.1507C>G