Canonical Allele Identifier: PA2830152388
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2084979
ClinVar RCV Id: RCV003011418
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Asp682Asn
CA10072425
NM_058174.3:c.2044G>A