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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:
CA653191725
Gene: FOXE1
HGNC
NCBI
Linked Data
COSMIC:
COSN18719877
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.97853895_97853896insA , CM000671.2:g.97853895_97853896insA
GRCh38
NC_000009.11:g.100616177_100616178insA , CM000671.1:g.100616177_100616178insA
GRCh37
NC_000009.10:g.99655998_99655999insA
NCBI36
NG_011979.1:g.5641_5642insA
Transcript Alleles
HGVS
Amino-acid change
ENST00000375123.5:c.-20_-19insA
MANE Select
ENSP00000364265.3:n.-20_-19insA
ENST00000375123.4:c.-20_-19insA
ENSP00000364265.3:n.-20_-19insA
NM_004473.3:c.-20_-19insA
NP_004464.2:n.-20_-19insA
NM_004473.4:c.-20_-19insA
MANE Select
NP_004464.2:n.-20_-19insA
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