Canonical Allele Identifier: PA2580259217
Gene: COL6A1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.His181Gln
CA410518140
NM_001848.3:c.543C>A
CA410518142
NM_001848.3:c.543C>G