Canonical Allele Identifier: PA2830151845
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 340363
ClinVar RCV Id: RCV000270969 RCV000363224 RCV000512764 RCV001865241
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Ala217Thr
CA10071363
NM_058174.3:c.649G>A