Allele Registry

Canonical Allele Identifier: PA658811004

Gene: COL6A2 HGNC NCBI

ClinVar Allele:

488944

ClinVar RCV:

RCV000593505

RCV001139299

RCV001236809

RCV004530660

ClinVar Variation:

497520

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Ser960Leu	CA10073073 NM_001849.4:c.2879C>T