ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827495247
Gene: PDE6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
349383
ClinVar RCV Id:
RCV000344856
RCV000402966
RCV003888833
RCV002523475
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337083.1:p.Asn370Asp
CA2794787
NM_001350154.3:c.1108A>G