Canonical Allele Identifier: PA916054325
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 340366
ClinVar RCV Id: RCV000262016 RCV000368303 RCV001214463
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Arg338His
CA10071632
NM_058175.3:c.1013G>A