Canonical Allele Identifier: PA2830122930
Gene: COL11A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 392007
ClinVar RCV Id: RCV000439022 RCV000680456 RCV001097884 RCV001097885 RCV004022502 RCV004533127
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542197.3:p.Thr1485Asn
CA973407
NM_080630.4:c.4454C>A