Canonical Allele Identifier: PA246299
Gene: COL11A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 197911
ClinVar RCV Id: RCV000179067 RCV000303130 RCV000395394 RCV002508926
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542196.2:p.Val1283Leu
CA246297
NM_080629.3:c.3847G>T
CA341162107
NM_080629.3:c.3847G>C