Canonical Allele Identifier: PA274955
Gene: COL6A1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Gly302Arg
CA274953
NM_001848.3:c.904G>C
CA10605766
NM_001848.3:c.904G>A