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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:
PA645439076
Gene: SGCA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284685
ClinVar RCV Id:
RCV000277867
RCV000725508
RCV001122686
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000014.1:p.Ile103Val
CA8643746
NM_000023.3:c.307A>G