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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:
PA2828779891
Gene: BRAF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
40384
ClinVar RCV Id:
RCV000033328
RCV000677114
RCV000824924
RCV001265848
RCV003539765
ClinVar Variation Id:
180788
ClinVar RCV Id:
RCV000157823
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365403.1:p.His574Gln
CA281986
NM_001378474.1:c.1722C>G
CA295914
NM_001378474.1:c.1722C>A