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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:
PA2825151688
Gene: CASR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
410355
ClinVar RCV Id:
RCV000493534
RCV000463689
RCV001030008
RCV002222184
RCV002268085
RCV004022778
RCV004554781
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000379.3:p.Ile283Thr
CA2569545
NM_000388.4:c.848T>C