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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:
PA2830019406
Gene: FGFR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2505447
ClinVar RCV Id:
RCV003234715
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075594.1:p.Ser594Cys
CA370729150
NM_023106.3:c.1781C>G