ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA146175
Gene: PDE6A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
93010
ClinVar RCV Id:
RCV000078825
RCV001001657
RCV001521115
RCV001156330
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000431.2:p.His655Tyr
CA146174
NM_000440.3:c.1963C>T