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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:
PA645429684
Gene: SLC52A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
246564
ClinVar RCV Id:
RCV000236546
RCV001233090
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_078807.1:p.Cys126Gly
CA4938178
NM_024531.5:c.376T>G