ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828686504
Gene: MTM1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
169992
ClinVar RCV:
RCV000146457
ClinVar Variation:
158978
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001363835.1:p.Pro179Ser
CA271892
NM_001376906.1:c.535C>T