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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:
PA2826287336
Gene: ASPM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
585442
ClinVar RCV Id:
RCV000710624
RCV003453511
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001193775.1:p.Arg601Ile
CA1310649
NM_001206846.2:c.1802G>T