ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139683690
Gene: MMUT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
971894
ClinVar RCV Id:
RCV002564126
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000246.2:p.Glu501Gln
CA3846861
NM_000255.4:c.1501G>C