ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741955868
Gene: NBAS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056993.2:p.Glu828Gln
CA345890036
NM_015909.4:c.2482G>C