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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:
PA2828095775
Gene: HARS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
214543
ClinVar RCV Id:
RCV000199285
RCV000223531
RCV000782169
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350464.1:p.Arg156Cys
CA323817
NM_001363535.2:c.466C>T