ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645435375
Gene: MMUT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
290030
ClinVar RCV Id:
RCV000706536
RCV000726418
RCV001276752
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000246.2:p.Ile372Thr
CA3846956
NM_000255.4:c.1115T>C