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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:
CA1015375204
Gene: JAG1
HGNC
NCBI
Linked Data
dbSNP Id:
rs2067336368
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.10650239del , CM000682.2:g.10650239del
GRCh38
NC_000020.10:g.10630887del , CM000682.1:g.10630887del
GRCh37
NC_000020.9:g.10578887del
NCBI36
NG_007496.1:g.28808del
Transcript Alleles
HGVS
Amino-acid change
ENST00000254958.10:c.1234+8del
MANE Select
ENSP00000254958.4:n.1234+8del
ENST00000617965.2:n.1823+8del
ENST00000254958.9:c.1234+8del
ENSP00000254958.4:n.1234+8del
ENST00000423891.6:n.1100+8del
ENST00000622545.1:c.11+8del
NM_000214.2:c.1234+8del
NP_000205.1:n.1234+8del
NM_000214.3:c.1234+8del
MANE Select
NP_000205.1:n.1234+8del
Search 100 bp 5'
Search 100 bp 3'