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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:
PA128077
Gene: CHRNA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
18382
ClinVar RCV Id:
RCV000020050
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000070.1:p.Val305Ile
CA128076
NM_000079.4:c.913G>A