ClinGen Allele Registry
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Canonical Allele Identifier:
PA095593
Gene: MTM1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
170001
ClinVar RCV:
RCV000146466
RCV001564887
ClinVar Variation:
158987
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000243.1:p.Pro205Leu
CA271909
NM_000252.3:c.614C>T