ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499234655
Gene: NFASC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005388.2:p.Thr973Ile
CA344378891
NM_001005388.3:c.2918C>T