Canonical Allele Identifier: PA658666380
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 459699
ClinVar RCV Id: RCV002231691
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Pro1538Thr
CA375458076
NM_001278074.1:c.4612C>A