Canonical Allele Identifier: PA2830122786
Gene: COL11A1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542197.3:p.Ser1419Pro
CA212992
NM_080630.4:c.4255T>C
CA2573130853
NM_080630.4:c.4254_4255delinsCC