Canonical Allele Identifier: PA645455033
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 335137
ClinVar RCV Id: RCV000377726 RCV000997706 RCV001865214
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Val666Ile
CA2189498
NM_004369.4:c.1996G>A