Canonical Allele Identifier: PA2830152040
Gene: COL6A2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Gly379Arg
CA410528002
NM_058174.3:c.1135G>A
CA410528004
NM_058174.3:c.1135G>C