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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:
PA891863240
Gene: ITGB4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
591318
ClinVar RCV Id:
RCV000722496
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000204.3:p.Pro125Ser
CA401039031
NM_000213.5:c.373C>T