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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:
PA138010
Gene: ADGRV1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
46259
ClinVar RCV Id:
RCV000039515
RCV000419837
RCV001155716
RCV004549458
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_115495.3:p.Thr4090Asn
CA138009
NM_032119.4:c.12269C>A