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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:
PA2826942287
Gene: CHRND
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2337704
ClinVar RCV Id:
RCV002949968
RCV003396830
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001298124.1:p.Ser211Thr
CA351005269
NM_001311195.2:c.631T>A