Canonical Allele Identifier: PA2499259194
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_001835.3:p.Ser1416Phe
CA6534515
NM_001844.5:c.4247C>T