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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:
CA2198787565
Gene: ARRDC4
HGNC
NCBI
Linked Data
dbSNP Id:
rs1899294624
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.97960846dup , CM000677.2:g.97960846dup
GRCh38
NC_000015.9:g.98504076dup , CM000677.1:g.98504076dup
GRCh37
NC_000015.8:g.96305080dup
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000268042.7:c.-16dup
MANE Select
ENSP00000268042.6:n.-16dup
ENST00000268042.6:c.-16dup
ENSP00000268042.6:n.-16dup
NM_183376.2:c.-16dup
NP_899232.2:n.-16dup
NM_183376.3:c.-16dup
MANE Select
NP_899232.2:n.-16dup
Search 100 bp 5'
Search 100 bp 3'