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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:
PA2825061953
Gene: FGFR3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1693093
ClinVar RCV Id:
RCV002259520
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000133.1:p.Ala374Gly
CA355978953
NM_000142.5:c.1121C>G