ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825139802
Gene: PDE6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
349375
ClinVar RCV Id:
RCV000267066
RCV000361712
RCV001861237
RCV003243107
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000274.3:p.Asp433Asn
CA2794445
NM_000283.4:c.1297G>A