ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645495629
Gene: PDE6A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
351994
ClinVar RCV Id:
RCV000360865
RCV001234568
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000431.2:p.Val277Ala
CA3504937
NM_000440.3:c.830T>C