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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:
PA2580159593
Gene: CASR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2148631
ClinVar RCV Id:
RCV004070467
RCV003063492
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171536.2:p.Asp398Val
CA354152787
NM_001178065.2:c.1193A>T