ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499228433
Gene: COMP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1067972
ClinVar RCV Id:
RCV001379384
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000086.2:p.Asp482Asn
CA404884328
NM_000095.3:c.1444G>A