Allele Registry

Canonical Allele Identifier: PA2829197534

Gene: CRTAP HGNC NCBI

ClinVar RCV:

RCV000506973

RCV000766891

RCV000999850

RCV002279286

RCV003935325

ClinVar Variation:

439559

HGVS (amino-acid)	Matching Registered Transcripts
NP_001380293.1:p.Leu304Phe	CA2300475 NM_001393364.1:c.910C>T