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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:
PA645505344
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
242195
ClinVar RCV Id:
RCV000231106
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Gly1171Asp
CA10582192
NM_198056.3:c.3512G>A