ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830123142
Gene: COL11A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542197.3:p.Arg1617His
CA246966
NM_080630.4:c.4850G>A