ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3067267495
Gene: PNKD
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070867.1:p.Arg101Cys
CA350545111
NM_001077399.3:c.301C>T