ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828818007
Gene: COG8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
235232
ClinVar RCV Id:
RCV000224018
RCV000438860
RCV001082485
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366193.1:p.Pro531Ser
CA8133644
NM_001379264.1:c.1591C>T