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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:
CA1828326424
Gene: PUM3
HGNC
NCBI
Linked Data
dbSNP Id:
rs1820790086
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.2777384_2777386del , CM000671.2:g.2777384_2777386del
GRCh38
NC_000009.11:g.2777384_2777386del , CM000671.1:g.2777384_2777386del
GRCh37
NC_000009.10:g.2767384_2767386del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000490444.2:c.276+5371_276+5373del
ENSP00000474467.1:n.276+5371_276+5373del
Search 100 bp 5'
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