ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580420235
Gene: MTPAP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060579.3:p.Leu399Ile
CA5459025
NM_018109.3:c.1195C>A