Canonical Allele Identifier: PA2825063198
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 658141
ClinVar RCV Id: RCV002235045 RCV001759582
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000084.3:p.Ser1735Asn
CA375460420
NM_000093.5:c.5204G>A