Canonical Allele Identifier: PA2830097150
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 308931
ClinVar RCV Id: RCV000296689 RCV000351659 RCV000763850 RCV000976095 RCV004537733
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_149162.2:p.Pro199Leu
CA6535779
NM_033150.3:c.596C>T