ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741877485
Gene: MTM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2540017
ClinVar RCV Id:
RCV003276663
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001363837.1:p.Ile52Val
CA415251249
NM_001376908.1:c.154A>G