Canonical Allele Identifier: PA2499259274
Gene: COL6A1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Glu519Asp
CA10070397
NM_001848.3:c.1557G>C
CA410530032
NM_001848.3:c.1557G>T