Canonical Allele Identifier: PA2741817875
Gene: COL5A2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000384.2:p.Glu1492Asp
CA349854183
NM_000393.5:c.4476A>T
CA349854185
NM_000393.5:c.4476A>C