Canonical Allele Identifier: PA645433057
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 282184
ClinVar RCV Id: RCV000386454 RCV000329881 RCV000723333 RCV000725047 RCV001257054 RCV002227938
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Gly171Arg
CA10071315
NM_001849.4:c.511G>A
CA410521884
NM_001849.4:c.511G>C