Canonical Allele Identifier: PA2830152449
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 286822
ClinVar RCV Id: RCV000335376 RCV000391271 RCV001082860 RCV001261892 RCV000725902 RCV004535372
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Arg724Cys
CA10072456
NM_058174.3:c.2170C>T