ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915983331
Gene: NFIA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000254980
RCV002518754
RCV003152700
ClinVar Variation:
265253
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138984.1:p.Arg166Cys
CA10588299
NM_001145512.2:c.496C>T