ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828842944
Gene: PRKCSH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1973183
ClinVar RCV Id:
RCV002731087
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366538.1:p.Leu289Phe
CA9213052
NM_001379609.1:c.865C>T