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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:
PA263843
Gene: SLC7A7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
56376
ClinVar RCV Id:
RCV000049789
RCV002307385
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001119578.1:p.Ser238Phe
CA263840
NM_001126106.4:c.713C>T