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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:
PA2827924775
Gene: KIF5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6806
ClinVar RCV Id:
RCV000007208
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341634.1:p.Asn167Ser
CA118520
NM_001354705.2:c.500A>G