Canonical Allele Identifier: PA2828686554
Gene: MTM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 92677
ClinVar RCV Id: RCV000078436 RCV000146479
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001363835.1:p.Trp230Arg
CA220541
NM_001376906.1:c.688T>C
CA415256300
NM_001376906.1:c.688T>A