ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645465507
Gene: IFT140
HGNC
NCBI
Linked Data
ClinVar Variation Id:
318039
ClinVar RCV Id:
RCV000336264
RCV001699311
RCV003888740
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055529.2:p.Gly1027Arg
CA7813325
NM_014714.4:c.3079G>A
CA7813326
NM_014714.4:c.3079G>C