ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829197183
Gene: CRTAP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001380292.1:p.Lys149Arg
CA2300276
NM_001393363.1:c.446A>G