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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:
PA2825203191
Gene: EYA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2807432
ClinVar RCV Id:
RCV003760753
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000494.2:p.Tyr438Cys
CA371466670
NM_000503.5:c.1313A>G