Canonical Allele Identifier: PA2573220203
Gene: COL6A1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Gly305Arg
CA410522312
NM_001848.3:c.913G>C
CA410522315
NM_001848.3:c.913G>A