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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:
PA2827714848
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1476557
ClinVar RCV Id:
RCV001998158
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340125.1:p.Ala465Glu
CA375312154
NM_001353196.2:c.1394C>A