Canonical Allele Identifier: PA2825063206
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 422922
ClinVar RCV Id: RCV000481607
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000084.3:p.Thr1743_His1745del
CA16618790
NM_000093.5:c.5227_5235del