Allele Registry

Canonical Allele Identifier: PA645509889

Gene: CRTAP HGNC NCBI

ClinVar Allele:

433464

ClinVar RCV:

RCV000506973

RCV000766891

RCV000999850

RCV002279286

RCV003935325

ClinVar Variation:

439559

HGVS (amino-acid)	Matching Registered Transcripts
NP_006362.1:p.Leu347Phe	CA2300475 NM_006371.5:c.1039C>T