ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825139504
Gene: PDE6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
193073
ClinVar RCV Id:
RCV000173097
RCV000779449
RCV001376247
RCV004535181
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000274.3:p.Arg100His
CA238578
NM_000283.4:c.299G>A