ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA343859
Gene: COMP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
40993
ClinVar RCV Id:
RCV000033885
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000086.2:p.Thr585Lys
CA343858
NM_000095.3:c.1754C>A