Canonical Allele Identifier: PA212994
Gene: COL11A1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542196.2:p.Ser1547Pro
CA212992
NM_080629.3:c.4639T>C
CA2573130853
NM_080629.3:c.4638_4639delinsCC