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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:
PA121374
Gene: AMELX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11142
ClinVar RCV Id:
RCV000011892
RCV001588809
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_872621.1:p.Pro70Thr
CA121373
NM_182680.1:c.208C>A