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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:
PA645414057
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
421138
ClinVar RCV Id:
RCV000481549
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004312.2:p.Arg13Ser
CA16617514
NM_004321.8:c.37C>A