Canonical Allele Identifier: PA2830152399
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2202354
ClinVar RCV Id: RCV002664064 RCV004072112
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Asn693Lys
CA10072436
NM_058174.3:c.2079C>A
CA410541458
NM_058174.3:c.2079C>G