ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826541950
Gene: CEP164
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000249179
RCV001511796
RCV001689873
ClinVar Variation:
260481
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001258862.1:p.Ser94Asn
CA6294387
NM_001271933.2:c.281G>A