Allele Registry

Canonical Allele Identifier: PA239206

Gene: COL6A2 HGNC NCBI

ClinVar Allele:

190797

ClinVar RCV:

RCV000311316

RCV000407691

RCV000536085

RCV000724011

ClinVar Variation:

193634

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Asp330Asn	CA239204 NM_001849.4:c.988G>A