Canonical Allele Identifier: PA2830151950
Gene: COL6A2 HGNC NCBI
ClinVar RCV:
RCV000559107
ClinVar Variation:
162541
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Gly304Val
CA295290
NM_058174.3:c.911G>T