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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:
PA107149
Gene: FRMD7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
29976
ClinVar RCV Id:
RCV000022868
RCV002513178
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_919253.1:p.Leu231Val
CA259720
NM_194277.3:c.691T>G