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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:
PA2573185849
Gene: CASR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1350964
ClinVar RCV Id:
RCV002042261
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171536.2:p.Gly397Glu
CA354152781
NM_001178065.2:c.1190G>A