ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828842641
Gene: PRKCSH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2000522
ClinVar RCV Id:
RCV002824592
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366537.1:p.Glu320_Glu333del
CA2580096631
NM_001379608.1:c.960_1001del