ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139729738
Gene: PNKD
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056303.3:p.Tyr293Cys
CA350542534
NM_015488.5:c.878A>G