ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499289860
Gene: MLPH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001612203
ClinVar Variation:
1229855
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077006.1:p.His347Arg
CA2190468
NM_024101.7:c.1040A>G