Canonical Allele Identifier: PA2830099052
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1051235
ClinVar RCV Id: RCV001359246
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_149162.2:p.Ser1347Phe
CA6534515
NM_033150.3:c.4040C>T