Canonical Allele Identifier: PA916054543
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 287938
ClinVar RCV Id: RCV000259742 RCV000348651 RCV000393023 RCV000873283 RCV001718584
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Ala649Thr
CA10072340
NM_058175.3:c.1945G>A