Canonical Allele Identifier: PA2830152387
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1004360
ClinVar RCV Id: RCV001301051 RCV001760350
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Asp682His
CA10072426
NM_058174.3:c.2044G>C