Canonical Allele Identifier: PA658676774
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 451448
ClinVar RCV Id: RCV000522488 RCV000688426
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Val1200Phe
CA2189136
NM_004369.4:c.3598G>T