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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:
PA221393
Gene: GBA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4293
ClinVar RCV Id:
RCV000004522
RCV000004523
RCV000004524
RCV000004525
RCV000004526
RCV000055773
RCV000079338
RCV000762853
RCV001004114
RCV001836695
RCV004018557
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005741.1:p.Asp448His
CA028618
NM_001005741.2:c.[1342G>C;882T>G]
CA221392
NM_001005741.2:c.1342G>C