Canonical Allele Identifier: PA916054228
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 286150
ClinVar RCV Id: RCV000389013 RCV000725795
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Gly280Arg
CA10605378
NM_058175.3:c.838G>C