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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:
PA265920
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68039
ClinVar RCV Id:
RCV000058842
RCV000182946
RCV001842411
RCV003162462
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092874.1:p.Val240Met
CA019765
NM_001099404.2:c.718G>A