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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:
PA138180
Gene: ADGRV1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
46354
ClinVar RCV Id:
RCV000039610
RCV000585498
RCV001156988
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_115495.3:p.Val2203Ala
CA138179
NM_032119.4:c.6608T>C