Canonical Allele Identifier: PA250672
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17361
ClinVar RCV Id: RCV000018905 RCV000484896 RCV002247358 RCV002272023 RCV003152666 RCV003320353 RCV001729352 RCV002276564
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_149162.2:p.Gly1128Ser
CA250671
NM_033150.3:c.3382G>A