Canonical Allele Identifier: PA645498737
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 365717
ClinVar RCV Id: RCV000383952 RCV000525069 RCV001764335 RCV002058782 RCV002429333 RCV003902426
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Asn852Ser
CA5319449
NM_001278074.1:c.2555A>G