ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916068591
Gene: PKD1L1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_612152.1:p.Arg2317Trp
CA4252269
NM_138295.5:c.6949C>T