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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:
PA108144
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67693
ClinVar RCV Id:
RCV000058457
RCV000148861
RCV000413033
RCV000779409
RCV001842300
RCV002477195
RCV004019039
RCV004537259
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Leu619Phe
CA015443
NM_198056.3:c.1855C>T