Canonical Allele Identifier: PA645400975
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 284109
ClinVar RCV Id: RCV000267314 RCV000323225 RCV000653553 RCV000725393
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Ser348Leu
CA10070040
NM_001848.3:c.1043C>T