ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825746677
Gene: NSMF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124443.1:p.Leu396Phe
CA375755707
NM_001130971.2:c.1186C>T