ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830008949
Gene: PNKD
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_072094.1:p.Glu283Lys
CA2104152
NM_022572.4:c.847G>A