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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:
PA341426
Gene: FGFR3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
16358
ClinVar RCV Id:
RCV000017769
RCV000850610
RCV001334259
RCV002513086
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000133.1:p.Ser84Leu
CA341425
NM_000142.5:c.251C>T