Canonical Allele Identifier: PA916009246
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 638919
ClinVar RCV Id: RCV001811482 RCV002234180
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Glu414Lys
CA5318685
NM_001278074.1:c.1240G>A