ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658809560
Gene: INF2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
518072
ClinVar RCV Id:
RCV001112479
RCV001698446
RCV001446526
RCV003945559
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071934.3:p.Ser483Phe
CA7372571
NM_022489.4:c.1448C>T