Canonical Allele Identifier: PA245533
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 197416
ClinVar RCV Id: RCV000178441 RCV000286598 RCV002516774 RCV000557223
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Thr2940Met
CA245531
NM_004369.4:c.8819C>T