Canonical Allele Identifier: PA2573193476
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1393746
ClinVar RCV Id: RCV001927222
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Val1725Met
CA201113762
NM_001278074.1:c.5173G>A