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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:
PA2825446822
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
452467
ClinVar RCV Id:
RCV000519422
RCV001853681
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070834.1:p.Arg390His
CA5293659
NM_001077366.2:c.1169G>A