Canonical Allele Identifier: PA2830152393
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1049390
ClinVar RCV Id: RCV001355422 RCV003517327 RCV004034446
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Ser685Leu
CA321972637
NM_058174.3:c.2054C>T