ClinGen Allele Registry
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Canonical Allele Identifier:
PA129377
Gene: COG6
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
39585
ClinVar RCV:
RCV000023603
RCV001701483
ClinVar Variation:
30628
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138551.1:p.Gly549Val
CA129376
NM_001145079.2:c.1646G>T