ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829830532
Gene: NSMF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056352.3:p.Leu419Phe
CA375755707
NM_015537.5:c.1255C>T