ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3072149540
Gene: MMUT
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000246.2:p.Glu117Lys
CA364404942
NM_000255.4:c.349G>A