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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:
PA2499271126
Gene: HCN4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
666387
ClinVar RCV Id:
RCV001323808
RCV002319936
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005468.1:p.Pro1042Leu
CA393086163
NM_005477.3:c.3125C>T