ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573095608
Gene: MLPH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1305772
ClinVar RCV Id:
RCV001770564
RCV002538792
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077006.1:p.Arg331Gln
CA2190429
NM_024101.7:c.992G>A