ClinGen Allele Registry
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Canonical Allele Identifier:
PA658813692
Gene: IFT172
HGNC
NCBI
Linked Data
ClinVar Variation Id:
521057
ClinVar RCV Id:
RCV000622689
RCV000797619
RCV001561475
RCV004547760
RCV002491337
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056477.1:p.Gln866Arg
CA1580242
NM_015662.3:c.2597A>G