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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:
PA645381218
Gene: FGFR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
376153
ClinVar RCV Id:
RCV000417597
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075259.4:p.Lys660Glu
CA16602610
NM_022970.3:c.1978A>G