ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826624393
Gene: MLPH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2276037
ClinVar RCV Id:
RCV002822635
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268402.1:p.Ala269Pro
CA2190408
NM_001281473.2:c.805G>C