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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:
PA2827716248
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
289094
ClinVar RCV Id:
RCV000271428
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340127.2:p.Lys683Gln
CA10606325
NM_001353198.2:c.2047A>C