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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:
PA253664
Gene: SLC19A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5964
ClinVar RCV Id:
RCV000006328
RCV003555939
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008927.1:p.Pro51Leu
CA253663
NM_006996.3:c.152C>T