Canonical Allele Identifier: PA645401180
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 281700
ClinVar RCV Id: RCV000386541 RCV001855086
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Val684Leu
CA10070733
NM_001848.3:c.2050G>T
CA410535230
NM_001848.3:c.2050G>C