ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580456707
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_079202.2:p.Asp310Asn
CA4508280
NM_024926.4:c.928G>A