Canonical Allele Identifier: PA2573193168
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1496162
ClinVar RCV Id: RCV002028445
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Ala553Val
CA5318886
NM_001278074.1:c.1658C>T