ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573073972
Gene: MTM1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000146434
ClinVar Variation:
158955
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001363837.1:p.Leu70Phe
CA271853
NM_001376908.1:c.208C>T