ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580420180
Gene: MTPAP
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV002701135
ClinVar Variation:
1959144
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060579.3:p.Ala16Gly
CA376429939
NM_018109.3:c.47C>G