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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:
PA2826926899
Gene: FANCM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
945491
ClinVar RCV Id:
RCV001216143
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001295063.1:p.Ser603Tyr
CA389594814
NM_001308134.2:c.1808C>A