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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:
PA891865186
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
590585
ClinVar RCV Id:
RCV000721649
RCV001592931
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Arg2458Leu
CA405670033
NM_000540.3:c.7373G>T