Canonical Allele Identifier: PA2741849028
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2907336
ClinVar RCV Id: RCV003760431
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Leu550Phe
CA375444135
NM_001278074.1:c.1648C>T