Canonical Allele Identifier: PA2830158779
Gene: COL11A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 356407
ClinVar RCV Id: RCV000289243 RCV000330126 RCV000383614 RCV000388187 RCV000506175 RCV001584080
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542412.2:p.Pro317Leu
CA3751427
NM_080681.3:c.950C>T