ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA316520
Gene: PNKP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
206421
ClinVar RCV Id:
RCV000188465
RCV000309427
RCV000456764
RCV000766601
RCV002415813
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009185.2:p.Pro7Ser
CA316519
NM_007254.4:c.19C>T