Canonical Allele Identifier: PA246968
Gene: COL11A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 198360
ClinVar RCV Id: RCV000179660 RCV000271060 RCV000357636 RCV000680455 RCV001262338 RCV004539684
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542196.2:p.Arg1745His
CA246966
NM_080629.3:c.5234G>A