ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658813175
Gene: PNKD
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056303.3:p.Glu307Lys
CA2104152
NM_015488.5:c.919G>A