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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:
PA2827917523
Gene: RAF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
504514
ClinVar RCV Id:
RCV000599885
RCV000681048
RCV001250388
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341619.1:p.Ser259Ala
CA351512423
NM_001354690.3:c.775T>G