Canonical Allele Identifier: PA916054406
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 284090
ClinVar RCV Id: RCV000293476 RCV000302628 RCV000383359 RCV001859591
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Asp438Asn
CA10071824
NM_058175.3:c.1312G>A