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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:
PA301976
Gene: HCN4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
190790
ClinVar RCV Id:
RCV000170949
RCV001852047
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005468.1:p.Arg1171Ile
CA301975
NM_005477.3:c.3512G>T