ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139739548
Gene: IFT140
HGNC
NCBI
Linked Data
ClinVar Variation Id:
866335
ClinVar RCV Id:
RCV001074233
RCV001366836
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055529.2:p.Ala418Pro
CA7814389
NM_014714.4:c.1252G>C