ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645389498
Gene: COG7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
235600
ClinVar RCV Id:
RCV000224383
RCV002519759
RCV004020722
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_705831.1:p.Ala696Val
CA7960795
NM_153603.4:c.2087C>T