ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA119904
Gene: PDE6C
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000009314
ClinVar Variation:
8769
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006195.3:p.Glu790Lys
CA119903
NM_006204.4:c.2368G>A