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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:
PA2827848824
Gene: FGFR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1306967
ClinVar RCV Id:
RCV001772425
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341299.1:p.Gly476Val
CA370731849
NM_001354370.2:c.1427G>T