Canonical Allele Identifier: PA645499218
Gene: COL5A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Glu1313Asp
CA10626800
NM_001278074.1:c.3939G>T
CA375456042
NM_001278074.1:c.3939G>C