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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:
PA915995270
Gene: CASR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8354
ClinVar RCV Id:
RCV000008859
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171536.2:p.Leu737Gln
CA119541
NM_001178065.2:c.2210T>A