ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645389491
Gene: COG7
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
324761
ClinVar RCV:
RCV000342241
ClinVar Variation:
318475
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_705831.1:p.Ile469Val
CA7961002
NM_153603.4:c.1405A>G