ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580420258
Gene: MTPAP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2101781
ClinVar RCV Id:
RCV003026222
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060579.3:p.Ser560Pro
CA205300871
NM_018109.3:c.1678T>C