ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA095542
Gene: MTM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
158955
ClinVar RCV Id:
RCV000146434
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000243.1:p.Leu70Phe
CA271853
NM_000252.3:c.208C>T