ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580502897
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_542197.3:p.Pro961Ser
CA341171090
NM_080630.4:c.2881C>T