Canonical Allele Identifier: PA2830151979
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 193634
ClinVar RCV Id: RCV000311316 RCV000407691 RCV000536085 RCV000724011
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Asp330Asn
CA239204
NM_058174.3:c.988G>A