ClinGen Allele Registry
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Canonical Allele Identifier:
PA271812
Gene: MTM1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000146411
ClinVar Variation:
158932
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000243.1:p.His469Arg
CA271810
NM_000252.3:c.1406A>G