Canonical Allele Identifier: PA658818480
Gene: COL5A1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Asp220Glu
CA375446188
NM_001278074.1:c.660C>G
CA375446189
NM_001278074.1:c.660C>A