ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645495607
Gene: PDE6A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
352006
ClinVar RCV Id:
RCV000401940
RCV001417212
RCV002470846
RCV003389471
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000431.2:p.Asp92Asn
CA3505097
NM_000440.3:c.274G>A