Canonical Allele Identifier: PA2825061464
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 409089
ClinVar RCV Id: RCV002230374
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000084.3:p.Asp439Val
CA16612511
NM_000093.5:c.1316A>T