Canonical Allele Identifier: PA645434579
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 281946
ClinVar RCV Id: RCV000312881 RCV000653564
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Thr987Met
CA10073115
NM_001849.4:c.2960C>T