Allele Registry

Canonical Allele Identifier: PA658810711

Gene: COL6A1 HGNC NCBI

ClinVar Allele:

491784

ClinVar RCV:

RCV000593078

RCV000695955

ClinVar Variation:

500360

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Ile955Val	CA10071055 NM_001848.3:c.2863A>G