ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA224201
Gene: COG7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
96524
ClinVar RCV Id:
RCV000082677
RCV001397902
RCV003964948
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_705831.1:p.Ile284Phe
CA224200
NM_153603.4:c.850A>T