Canonical Allele Identifier: PA658817829
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 500213
ClinVar RCV Id: RCV000596369 RCV001234893
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Ala2975Val
CA2187412
NM_004369.4:c.8924C>T