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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830393194
Gene: NF2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
485981
ClinVar RCV Id:
RCV000562953
RCV000693900
RCV003148796
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861546.1:p.Asp567Asn
CA032649
NM_181825.3:c.1699G>A