ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825076465
Gene: MTM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1413701
ClinVar RCV Id:
RCV001928247
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000243.1:p.Arg207Cys
CA415256148
NM_000252.3:c.619C>T