Canonical Allele Identifier: PA645455548
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 286022
ClinVar RCV Id: RCV000361739 RCV001142818 RCV001228671 RCV004021189
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Pro3132Ser
CA2187278
NM_004369.4:c.9394C>T