Canonical Allele Identifier: PA247599
Gene: COL11A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 198777
ClinVar RCV Id: RCV000180223 RCV000401943 RCV000302249 RCV000724098 RCV004539694
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001845.3:p.Glu341Gln
CA247598
NM_001854.4:c.1021G>C