Canonical Allele Identifier: PA2573193494
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1348230
ClinVar RCV Id: RCV002044218
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Ile1782Asn
CA375460954
NM_001278074.1:c.5345T>A