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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:
CA1936850597
Gene: GUCY2GP
HGNC
NCBI
Linked Data
dbSNP Id:
rs1848748043
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.112318991del , CM000672.2:g.112318991del
GRCh38
NC_000010.10:g.114078749del , CM000672.1:g.114078749del
GRCh37
NC_000010.9:g.114068739del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000479705.5:n.2245-931del
ENST00000490269.1:n.461-931del
NR_028134.1:n.1994-931del
Search 100 bp 5'
Search 100 bp 3'