ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829347664
Gene: COL11A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2189990
ClinVar RCV Id:
RCV002611979
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001845.3:p.Pro1077Ser
CA341171090
NM_001854.4:c.3229C>T