Canonical Allele Identifier: PA2830152391
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 842860
ClinVar RCV Id: RCV001045354
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Ser685Trp
CA410541347
NM_058174.3:c.2054C>G