ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA095971
Gene: MMUT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
218996
ClinVar RCV Id:
RCV000203399
RCV000589534
RCV001376607
RCV001833170
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000246.2:p.Arg694Trp
CA347907
NM_000255.4:c.2080C>T