ClinGen Allele Registry
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Canonical Allele Identifier:
PA3082804143
Gene: PKD1L2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070248.1:p.Arg252Trp
CA8190154
NM_001076780.2:c.754C>T