ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830158923
Gene: COL11A2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542412.2:p.Arg460Gln
CA240966
NM_080681.3:c.1379G>A