ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573066130
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_001138763.2:p.Asp718Asn
CA2794912
NM_001145291.2:c.2152G>A