Allele Registry

Canonical Allele Identifier: PA658817829

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

491637

ClinVar RCV:

RCV000596369

RCV001234893

ClinVar Variation:

500213

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Ala2975Val	CA2187412 NM_004369.4:c.8924C>T