ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580488822
Gene: PKD1L1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_612152.1:p.Pro2687Ser
CA4251828
NM_138295.5:c.8059C>T