Canonical Allele Identifier: PA290332
Gene: COL5A1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Gln126His
CA290330
NM_001278074.1:c.378G>T
CA375442878
NM_001278074.1:c.378G>C