Canonical Allele Identifier: PA645400926
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 282116
ClinVar RCV Id: RCV000318177 RCV000362036 RCV000536586 RCV001718571 RCV002518840 RCV004535272
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Val333Met
CA10069955
NM_001848.3:c.997G>A