ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827495387
Gene: PDE6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
287073
ClinVar RCV Id:
RCV000277605
RCV000297097
RCV000332675
RCV002286728
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337083.1:p.Asp439Asn
CA2794912
NM_001350154.3:c.1315G>A