ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828686944
Gene: MTM1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000146470
ClinVar Variation:
158991
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001363836.1:p.Leu176Phe
CA271916
NM_001376907.1:c.526C>T