ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830398368
Gene: NF2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
457924
ClinVar RCV Id:
RCV000553734
RCV001024724
RCV003236809
RCV003459196
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861968.1:p.Ala116Thr
CA411142713
NM_181830.3:c.346G>A