ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA257712
Gene: COL11A2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542410.2:p.Gly701Glu
CA257711
NM_080679.3:c.2102G>A