ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825269160
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_001005388.2:p.Val663Ile
CA1350151
NM_001005388.3:c.1987G>A