Canonical Allele Identifier: PA2573295151
Gene: COL6A2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Asp227Glu
CA410523099
NM_058175.3:c.681C>A
CA410523100
NM_058175.3:c.681C>G