ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829197768
Gene: CRTAP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001380294.1:p.Leu297Phe
CA2300475
NM_001393365.1:c.889C>T