ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA252703
Gene: NF2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_861969.1:p.Gln324Ter
NM_181831.3:c.970C>T