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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:
CA2544219381
Gene: WTAPP1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.102798609dup , CM000673.2:g.102798609dup
GRCh38
NC_000011.9:g.102669340dup , CM000673.1:g.102669340dup
GRCh37
NC_000011.8:g.102174550dup
NCBI36
NG_011740.1:g.4631dup
NG_011740.2:g.4631dup
Transcript Alleles
HGVS
Amino-acid Change
ENST00000371455.7:n.423+487dup
ENST00000525739.6:n.682+487dup
ENST00000544704.1:n.443+487dup
NR_038390.1:n.682+487dup
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