ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741962528
Gene: MTPAP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2796663
ClinVar RCV Id:
RCV003670739
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060579.3:p.Val490Ile
CA376434706
NM_018109.3:c.1468G>A