ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA271918
Gene: MTM1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000146470
ClinVar Variation:
158991
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000243.1:p.Leu213Phe
CA271916
NM_000252.3:c.637C>T