ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828686936
Gene: MTM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
158987
ClinVar RCV Id:
RCV000146466
RCV001564887
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001363836.1:p.Pro168Leu
CA271909
NM_001376907.1:c.503C>T