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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:
PA100712
Gene: CHRNG
HGNC
NCBI
Linked Data
ClinVar Variation Id:
18337
ClinVar RCV Id:
RCV000020004
RCV000020003
RCV003556054
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005190.4:p.Arg239Cys
CA128049
NM_005199.5:c.715C>T