ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825215919
Gene: PRKCSH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
328180
ClinVar RCV Id:
RCV000320183
RCV002521184
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001001329.1:p.Ala251Val
CA9212963
NM_001001329.3:c.752C>T