Canonical Allele Identifier: PA2742002947
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2766555
ClinVar RCV Id: RCV003517716
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Glu253Asp
CA410523459
NM_058175.3:c.759A>C
CA410523461
NM_058175.3:c.759A>T