Canonical Allele Identifier: PA148023
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 94984
ClinVar RCV Id: RCV000080989 RCV000369989 RCV000534612 RCV001707522 RCV002514421
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Ile244Val
CA148021
NM_004369.4:c.730A>G