Canonical Allele Identifier: PA916054132
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 340362
ClinVar RCV Id: RCV000310823 RCV000393856 RCV001569668 RCV002523192
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Thr207Arg
CA10071351
NM_058175.3:c.620C>G