ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573100603
Gene: NF2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1312631
ClinVar RCV Id:
RCV001763637
RCV001868563
RCV004040245
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861969.1:p.Pro72Leu
CA411142144
NM_181831.3:c.215C>T