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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:
PA2829698804
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
954192
ClinVar RCV Id:
RCV001226608
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009125.1:p.Ala190Gly
CA411107066
NM_007194.4:c.569C>G