Canonical Allele Identifier: PA2830152161
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2729579
ClinVar RCV Id: RCV003518610
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Lys507Glu
CA10071923
NM_058174.3:c.1519A>G