Canonical Allele Identifier: PA2829584225
Gene: COL8A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3147818
ClinVar RCV Id: RCV004437651
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_005193.1:p.Arg434Cys
CA764967
NM_005202.4:c.1300C>T