Canonical Allele Identifier: PA2830151881
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2766555
ClinVar RCV Id: RCV003517716
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Glu253Asp
CA410523459
NM_058174.3:c.759A>C
CA410523461
NM_058174.3:c.759A>T