Canonical Allele Identifier: PA1139711958
Gene: COL6A1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Gly170Arg
CA10069594
NM_001848.3:c.508G>C
CA410518046
NM_001848.3:c.508G>A