Canonical Allele Identifier: PA2829328650
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2664969
ClinVar RCV Id: RCV003448519

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Asp615Asn
CA410538463
NM_001849.4:c.1843G>A