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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:
PA2825811551
Gene: FAM111B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
120217
ClinVar RCV Id:
RCV000106317
RCV001268217
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136175.1:p.Tyr591Asp
CA150785
NM_001142703.1:c.1771T>G