Allele Registry

Canonical Allele Identifier: PA645400595

Gene: COL6A1 HGNC NCBI

ClinVar RCV:

RCV000375024

RCV000694699

ClinVar Variation:

284567

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Asp95Glu	CA10069517 NM_001848.3:c.285C>G CA410515922 NM_001848.3:c.285C>A