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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:
PA916048409
Gene: EYA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7938
ClinVar RCV Id:
RCV000008400
RCV000309264
RCV000367199
RCV000496093
RCV000606853
RCV000657911
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357262.1:p.Gly455Ser
CA119167
NM_001370333.1:c.1363G>A