Canonical Allele Identifier: PA2830159715
Gene: COL11A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 356388
ClinVar RCV Id: RCV000292046 RCV000293307 RCV000352855 RCV000382942 RCV001850900
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542412.2:p.Arg1198Trp
CA10626652
NM_080681.3:c.3592C>T