ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826700070
Gene: IFT56
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002895201
RCV003903799
ClinVar Variation:
2038770
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274442.1:p.Asp205Asn
CA4508280
NM_001287513.2:c.613G>A