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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:
PA2828565973
Gene: FARS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
39824
ClinVar RCV Id:
RCV000033044
RCV000162158
RCV000497519
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362186.1:p.Tyr144Cys
CA130596
NM_001375257.1:c.431A>G