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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:
PA2825151305
Gene: CASR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1401735
ClinVar RCV Id:
RCV001913081
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000379.3:p.His192Asn
CA354150876
NM_000388.4:c.574C>A