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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:
PA2826512333
Gene: KCNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
132679
ClinVar RCV Id:
RCV000119091
RCV000148513
RCV000150856
RCV000321437
RCV000621107
RCV001094734
RCV001705874
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001257333.1:p.Thr125Met
CA176419
NM_001270404.3:c.374C>T