ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741965636
Gene: COG6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2610813
ClinVar RCV Id:
RCV003378491
RCV003778040
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065802.1:p.Pro369Ser
CA248374073
NM_020751.3:c.1105C>T