Canonical Allele Identifier: PA2830151725
Gene: COL6A2 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.His100Gln
CA10071257
NM_058174.3:c.300C>G
CA410520621
NM_058174.3:c.300C>A