ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828754742
Gene: NFASC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365258.1:p.Thr1080Ile
CA344378891
NM_001378329.1:c.3239C>T