Canonical Allele Identifier: PA2830148125
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 499875
ClinVar RCV Id: RCV000598360 RCV000806184
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Arg1852Gln
CA2187813
NM_057166.5:c.5555G>A