Canonical Allele Identifier: PA1139706400
Gene: COL6A3 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Asp1848Glu
CA2188634
NM_004369.4:c.5544C>A
CA351186294
NM_004369.4:c.5544C>G