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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:
PA2827938447
Gene: FGFR3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1680062
ClinVar RCV Id:
RCV002236436
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341739.1:p.Val381Lys
CA2573137472
NM_001354810.2:c.1141_1142delinsAA