Canonical Allele Identifier: PA1139746531
Gene: COL11A1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542196.2:p.Glu1753Asp
CA973288
NM_080629.3:c.5259G>C
CA341210837
NM_080629.3:c.5259G>T