ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825269225
Gene: NFASC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV003362413
ClinVar Variation:
2613546
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005389.2:p.Pro7Leu
CA1349365
NM_001005389.2:c.20C>T