ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645389485
Gene: COG7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
318477
ClinVar RCV Id:
RCV000827212
RCV001081679
RCV003940247
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_705831.1:p.His393Arg
CA7961056
NM_153603.4:c.1178A>G