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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:
PA2827847352
Gene: FGFR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
224897
ClinVar RCV Id:
RCV000210479
RCV000420790
RCV000420160
RCV000430840
RCV000438709
RCV000441552
RCV000428027
RCV001849345
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341296.1:p.Lys654Glu
CA358862
NM_001354367.2:c.1960A>G