Canonical Allele Identifier: PA2830129992
Gene: COL11A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 356393
ClinVar RCV Id: RCV000260343 RCV000348277 RCV000355182 RCV000405447 RCV001580488
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542410.2:p.Pro1003Ser
CA3750551
NM_080679.3:c.3007C>T