ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825951847
Gene: NFASC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153803.1:p.Leu569Gln
CA344391357
NM_001160331.2:c.1706T>A