Canonical Allele Identifier: PA916054302
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 162541
ClinVar RCV Id: RCV000559107
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Gly304Val
CA295290
NM_058175.3:c.911G>T