Allele Registry

Canonical Allele Identifier: PA645400879

Gene: COL6A1 HGNC NCBI

ClinVar RCV:

RCV000726504

RCV003517178

ClinVar Variation:

290527

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Pro259Leu	CA10069746 NM_001848.3:c.776C>T