ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830132553
Gene: IFT122
HGNC
NCBI
Linked Data
ClinVar Variation Id:
530928
ClinVar RCV Id:
RCV000637014
RCV001756057
RCV004025487
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_443715.1:p.Asp418Asn
CA2606114
NM_052989.3:c.1252G>A