ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829775077
Gene: NFASC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055905.2:p.Thr1016Ile
CA1350433
NM_015090.4:c.3047C>T