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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:
PA180132
Gene: IQCB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
167196
ClinVar RCV Id:
RCV000153382
RCV000234821
RCV000325055
RCV001706024
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001018864.2:p.Ile393Asn
CA180131
NM_001023570.4:c.1178T>A