This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Canonical Allele Identifier: PA2573073967
Gene: MTM1 HGNC NCBI
ClinVar RCV:
RCV000146418
ClinVar Variation:
158939
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001363837.1:p.Val49Ile
CA271826
NM_001376908.1:c.145G>A