ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA095608
Gene: IFT140
HGNC
NCBI
Linked Data
ClinVar Variation Id:
31679
ClinVar RCV Id:
RCV000024359
RCV000515561
RCV001781315
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055529.2:p.Glu664Lys
CA129885
NM_014714.4:c.1990G>A