ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573250079
Gene: CRTAP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006362.1:p.Val268Ile
CA72668052
NM_006371.5:c.802G>A