Canonical Allele Identifier: PA2825062985
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 459697
ClinVar RCV Id: RCV001263364 RCV003159774 RCV001755816 RCV002231689
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000084.3:p.Pro1536Leu
CA5320360
NM_000093.5:c.4607C>T