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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
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Canonical Allele Identifier:
CA2518784853
Gene: WTAPP1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.102809460_102809461insTGCA , CM000673.2:g.102809460_102809461insTGCA
GRCh38
NC_000011.9:g.102680191_102680192insTGCA , CM000673.1:g.102680191_102680192insTGCA
GRCh37
NC_000011.8:g.102185401_102185402insTGCA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000371455.7:n.423+11338_423+11339insTGCA
ENST00000525739.6:n.682+11338_682+11339insTGCA
ENST00000544704.1:n.443+11338_443+11339insTGCA
NR_038390.1:n.682+11338_682+11339insTGCA
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