Canonical Allele Identifier: PA2830130848
Gene: COL11A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1371300
ClinVar RCV Id: RCV001878928 RCV003348556
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542410.2:p.Val1544Phe
CA363616281
NM_080679.3:c.4630G>T