ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825076300
Gene: MTM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2877864
ClinVar RCV Id:
RCV003617702
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000243.1:p.Ile52Met
CA415251272
NM_000252.3:c.156A>G