Canonical Allele Identifier: PA645500712
Gene: COL5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 237777
ClinVar RCV Id: RCV000232540 RCV002229797 RCV001582766
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000384.2:p.Asn1454Lys
CA2021790
NM_000393.5:c.4362T>A
CA349854739
NM_000393.5:c.4362T>G