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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:
PA2826840223
Gene: SLC45A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1463911
ClinVar RCV Id:
RCV001956749
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001284346.2:p.Pro86Ser
CA359397497
NM_001297417.4:c.256C>T