ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139735238
Gene: IFT172
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056477.1:p.Pro438Leu
CA1580712
NM_015662.3:c.1313C>T