ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645389440
Gene: COG7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
318486
ClinVar RCV Id:
RCV000514059
RCV001080981
RCV002520999
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_705831.1:p.Ala136Thr
CA7961315
NM_153603.4:c.406G>A