Canonical Allele Identifier: PA2825060554
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_000084.3:p.Pro18Ser
CA16612509
NM_000093.5:c.52C>T