Canonical Allele Identifier: PA2825063173
Gene: COL5A1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000084.3:p.Asp1717_Glu1719del
CA658797358
NM_000093.5:c.5150_5158del