Canonical Allele Identifier: PA2830152267
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 542955
ClinVar RCV Id: RCV000653503 RCV003144449
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Val598Met
CA10072217
NM_058174.3:c.1792G>A