ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658673714
Gene: MTPAP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
447740
ClinVar RCV Id:
RCV000516782
RCV004023515
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060579.3:p.Glu465Lys
CA5458954
NM_018109.3:c.1393G>A