ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916065563
Gene: CFAP44
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000626424
ClinVar Variation:
523151
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060808.2:p.Leu590Gln
CA2544063
NM_018338.3:c.1769T>A