ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828196290
Gene: NFASC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV003087593
RCV003250752
ClinVar Variation:
2160274
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001352915.1:p.Val659Ile
CA1350151
NM_001365986.1:c.1975G>A