ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825951880
Gene: NFASC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153803.1:p.Val1071Glu
CA344388095
NM_001160331.2:c.3212T>A