Canonical Allele Identifier: PA2825063250
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 459712
ClinVar RCV Id: RCV002231309
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000084.3:p.Met1774Thr
CA375460863
NM_000093.5:c.5321T>C