Canonical Allele Identifier: PA324595
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 212936
ClinVar RCV Id: RCV000200041 RCV002228841 RCV002399718 RCV003323438 RCV003224216
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Ala532Val
CA324593
NM_001278074.1:c.1595C>T