Canonical Allele Identifier: PA2830151901
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 968454
ClinVar RCV Id: RCV001243590 RCV002564068
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Met273Leu
CA10071481
NM_058174.3:c.817A>T
CA410524685
NM_058174.3:c.817A>C