Canonical Allele Identifier: PA233815
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 166931
ClinVar RCV Id: RCV000153083 RCV000557300
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Asp446His
CA233813
NM_001849.4:c.1336G>C