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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:
PA2828559270
Gene: FAM111A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
56810
ClinVar RCV Id:
RCV000050209
RCV000419087
RCV000988563
RCV001249420
RCV001267015
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361784.1:p.Arg569His
CA344770
NM_001374855.1:c.1706G>A