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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:
PA2825150928
Gene: CASR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
645213
ClinVar RCV Id:
RCV000799255
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000379.3:p.Thr92Met
CA2569453
NM_000388.4:c.275C>T