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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:
PA313610
Gene: CHRNA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
205045
ClinVar RCV Id:
RCV000460546
RCV000844908
RCV001089136
RCV002433834
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000735.1:p.Arg99His
CA313609
NM_000744.7:c.296G>A