ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573074063
Gene: MTM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
461696
ClinVar RCV Id:
RCV000527810
RCV000605492
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001363837.1:p.Ala485Val
CA10539261
NM_001376908.1:c.1454C>T