ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499230132
Gene: MMUT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1073632
ClinVar RCV Id:
RCV001386690
RCV002504646
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000246.2:p.Pro194Leu
CA364404418
NM_000255.4:c.581C>T