Canonical Allele Identifier: PA645496924
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 409115
ClinVar RCV Id: RCV000518865 RCV002230387 RCV002348313
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Pro18Ser
CA16612509
NM_001278074.1:c.52C>T