ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827496270
Gene: PDE6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
195457
ClinVar RCV Id:
RCV000176031
RCV000259243
RCV000314427
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337084.1:p.Val397Met
CA241888
NM_001350155.3:c.1189G>A