ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA271797
Gene: MTM1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
170055
ClinVar RCV:
RCV000146406
ClinVar Variation:
158927
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000243.1:p.Asn459Ile
CA271795
NM_000252.3:c.1376A>T