ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA109153
Gene: PDE6A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
193099
ClinVar RCV Id:
RCV000173136
RCV000407624
RCV001073620
RCV001257852
RCV001376501
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000431.2:p.Arg102Ser
CA238610
NM_000440.3:c.304C>A