ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA113098
Gene: MLPH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4268
ClinVar RCV Id:
RCV000004489
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077006.1:p.Arg35Trp
CA116747
NM_024101.7:c.103C>T