ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828754694
Gene: NFASC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2160274
ClinVar RCV Id:
RCV003087593
RCV003250752
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365258.1:p.Val663Ile
CA1350151
NM_001378329.1:c.1987G>A