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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:
PA2825941591
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67795
ClinVar RCV Id:
RCV000058569
RCV000587127
RCV001842336
RCV002453376
RCV002498344
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153632.1:p.Thr1130Ile
CA017114
NM_001160160.2:c.3389C>T