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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:
PA2827938654
Gene: FGFR3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
16355
ClinVar RCV Id:
RCV000017765
RCV002228033
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341739.1:p.Arg622His
CA126386
NM_001354810.2:c.1865G>A