Canonical Allele Identifier: PA295266
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 162532
ClinVar RCV Id: RCV000593309 RCV000810925
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Gly286Glu
CA295264
NM_001849.4:c.857G>A