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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:
PA2828859179
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
422067
ClinVar RCV Id:
RCV000487011
RCV000534578
RCV001251229
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366568.1:p.Gly102Ser
CA16617512
NM_001379639.1:c.304G>A