This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: COL6A2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000300527.4:p.Val249Leu
CA410523400
ENST00000300527.9:c.745G>C
CA410523402
ENST00000300527.9:c.745G>T