Canonical Allele Identifier: PA645400795
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 281289
ClinVar RCV Id: RCV000379667 RCV000819388 RCV003401233
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Arg222His
CA10069645
NM_001848.3:c.665G>A