Canonical Allele Identifier: PA1139756013
Gene: COL6A2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.His100Gln
CA10071257
NM_058175.3:c.300C>G
CA410520621
NM_058175.3:c.300C>A