Canonical Allele Identifier: PA658663175
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 476495
ClinVar RCV Id: RCV000559454
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Pro288Leu
CA10071514
NM_001849.4:c.863C>T