ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828686709
Gene: MTM1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000146408
ClinVar Variation:
158929
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001363835.1:p.Leu463Ser
CA271801
NM_001376906.1:c.1388T>C