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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:
CA1664918305
Gene: EYA4
HGNC
NCBI
Linked Data
dbSNP Id:
rs3813346
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.133240508T>A , CM000668.2:g.133240508T>A
GRCh38
NC_000006.11:g.133561646T>A , CM000668.1:g.133561646T>A
GRCh37
NC_000006.10:g.133603339T>A
NCBI36
NG_011596.1:g.4152T>A
NG_011596.2:g.4152T>A
Transcript Alleles
HGVS
Amino-acid change
XM_017010368.2:c.-517T>A
XP_016865857.1:n.-517T>A
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