ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499284424
Gene: MTPAP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1028088
ClinVar RCV Id:
RCV001329047
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060579.3:p.Leu558Pro
CA5458908
NM_018109.3:c.1673T>C