ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828196334
Gene: NFASC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001352915.1:p.Glu1047Lys
CA344392274
NM_001365986.1:c.3139G>A