ClinGen Allele Registry
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Canonical Allele Identifier:
PA916030317
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_001337084.1:p.Asp48Asn
CA2794445
NM_001350155.3:c.142G>A