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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:
PA2741917979
Gene: KIF5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2768832
ClinVar RCV Id:
RCV003590988
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004975.2:p.Arg280Pro
CA385500497
NM_004984.4:c.839G>C