Allele Registry

Canonical Allele Identifier: PA658663309

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000548374

RCV003258877

ClinVar Variation:

476468

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Asp803Asn	CA10072551 NM_001849.4:c.2407G>A