ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499275988
Gene: PNKP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1044449
ClinVar RCV Id:
RCV001348694
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009185.2:p.Ser470Phe
CA406932833
NM_007254.4:c.1409C>T