Canonical Allele Identifier: PA323685
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 213047
ClinVar RCV Id: RCV000199147 RCV000279787 RCV000509160 RCV002229075 RCV002433874
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Thr1008Met
CA323683
NM_001278074.1:c.3023C>T