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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:
PA211844
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68037
ClinVar RCV Id:
RCV000058840
RCV000148856
RCV000246365
RCV000724673
RCV000987235
RCV001842410
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Val232Ile
CA019745
NM_198056.3:c.694G>A