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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:
PA891865553
Gene: ATP8B1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
288710
ClinVar RCV Id:
RCV000382438
RCV000791070
RCV000370144
RCV002521997
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005594.2:p.Thr177Met
CA8974818
NM_005603.6:c.530C>T