ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828686931
Gene: MTM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
633473
ClinVar RCV Id:
RCV000781957
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001363836.1:p.Tyr161Ser
CA415256094
NM_001376907.1:c.482A>C