Canonical Allele Identifier: PA2830130632
Gene: COL11A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 356384
ClinVar RCV Id: RCV000297620 RCV000306065 RCV000354788 RCV000406272 RCV001553516
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542410.2:p.Pro1422Leu
CA3750047
NM_080679.3:c.4265C>T