ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580335172
Gene: PRKCH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006246.2:p.Val344Ile
CA389917556
NM_006255.5:c.1030G>A