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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:
PA2825491234
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
629785
ClinVar RCV Id:
RCV001841960
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092874.1:p.Met1838Lys
CA352140951
NM_001099404.2:c.5513T>A