ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826195100
Gene: MATR3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001181885.1:p.Ser417Ile
CA3433300
NM_001194956.2:c.1250G>T