ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499272935
Gene: PDE6H
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1044479
ClinVar RCV Id:
RCV001348726
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006196.1:p.Lys21Glu
CA384023914
NM_006205.3:c.61A>G