Canonical Allele Identifier: PA2580259200
Gene: COL6A1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Asp75Glu
CA410514820
NM_001848.3:c.225C>A
CA410514821
NM_001848.3:c.225C>G