Canonical Allele Identifier: PA324358
Gene: COL5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213152
ClinVar RCV Id: RCV001705104 RCV002433876 RCV003330562 RCV002229101
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000384.2:p.Pro983Ser
CA324357
NM_000393.5:c.2947C>T