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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:
PA1139760824
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
899837
ClinVar RCV Id:
RCV001144664
RCV001144666
RCV001144665
RCV001144667
RCV001150774
RCV001150773
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Lys1359Thr
CA352147136
NM_198056.3:c.4076A>C