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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:
PA2827606311
Gene: ABCC8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9096
ClinVar RCV Id:
RCV000009664
RCV000710390
RCV001831558
RCV004549354
RCV003466844
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338226.1:p.Arg1492Trp
CA254633
NM_001351297.2:c.4474C>T