Canonical Allele Identifier: PA2830148507
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 95012
ClinVar RCV Id: RCV000081017 RCV000264490 RCV000710916 RCV001517165
ClinVar Variation Id: 597563
ClinVar RCV Id: RCV000733728 RCV003631159
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Ala2353del
CA148080
NM_057166.5:c.7056_7058del
CA2187425
NM_057166.5:c.7044_7046del