ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573073989
Gene: MTM1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000146461
RCV003226903
ClinVar Variation:
158982
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001363837.1:p.Thr186Ile
CA271900
NM_001376908.1:c.557C>T