Canonical Allele Identifier: PA916009867
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 660025
ClinVar RCV Id: RCV002235359
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Gly1768Asp
CA375460787
NM_001278074.1:c.5303G>A