ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828686721
Gene: MTM1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000146416
ClinVar Variation:
158937
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001363835.1:p.Phe478Ser
CA271820
NM_001376906.1:c.1433T>C