Canonical Allele Identifier: PA2829197446
Gene: CRTAP HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001380293.1:p.Gln152His
CA2300279
NM_001393364.1:c.456G>C
CA352008887
NM_001393364.1:c.456G>T