ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573162336
Gene: COMP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1497620
ClinVar RCV Id:
RCV001996175
RCV002276979
RCV002642039
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000086.2:p.Ser444Cys
CA9316436
NM_000095.3:c.1331C>G