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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:
PA170985
Gene: SLC19A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
157588
ClinVar RCV Id:
RCV000144916
RCV001788041
RCV002055868
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_919231.1:p.His27Arg
CA170984
NM_194255.4:c.80A>G