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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:
PA915997427
Gene: MID1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
10811
ClinVar RCV Id:
RCV000011558
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001180207.1:p.Leu346Pro
CA255555
NM_001193278.1:c.1037T>C