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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:
PA2580443807
Gene: HCN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2432380
ClinVar RCV Id:
RCV003135525
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066550.2:p.Gly303Ser
CA359704987
NM_021072.4:c.907G>A