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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:
PA2573245264
Gene: HCN4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1366507
ClinVar RCV Id:
RCV001930145
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005468.1:p.Gln181Glu
CA393097698
NM_005477.3:c.541C>G