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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:
PA2828124418
Gene: ATP2B2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
421722
ClinVar RCV Id:
RCV000484854
RCV003335365
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350791.1:p.Glu412Lys
CA16617794
NM_001363862.1:c.1234G>A