ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829757499
Gene: CYFIP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2210887
ClinVar RCV Id:
RCV004079446
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055423.1:p.Thr817Met
CA7425101
NM_014608.6:c.2450C>T