Canonical Allele Identifier: PA2829197388
Gene: CRTAP HGNC NCBI

Linked Data

ClinVar Variation Id: 1449452
ClinVar RCV Id: RCV001997555

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001380293.1:p.Ser89Arg
CA352008499
NM_001393364.1:c.265A>C
CA352008504
NM_001393364.1:c.267C>A
CA352008505
NM_001393364.1:c.267C>G