ClinGen Allele Registry
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Canonical Allele Identifier:
PA645467445
Gene: COG6
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
328301
ClinVar RCV:
RCV000379241
RCV000650373
RCV003144201
RCV004537768
ClinVar Variation:
312133
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065802.1:p.Asp107Val
CA6958275
NM_020751.3:c.320A>T