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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:
PA2826287289
Gene: ASPM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2103373
ClinVar RCV Id:
RCV003022116
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001193775.1:p.Pro470Ala
CA344016405
NM_001206846.2:c.1408C>G