ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830008597
Gene: PNKD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1042649
ClinVar RCV Id:
RCV001346640
RCV002508959
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_072094.1:p.Ile112Met
CA2103938
NM_022572.4:c.336C>G