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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:
PA2830429148
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3073752
ClinVar RCV Id:
RCV004016758
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Ala296Thr
CA352150411
NM_198056.3:c.886G>A