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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:
PA2825817097
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2180799
ClinVar RCV Id:
RCV002619443
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001129586.1:p.Gly506Arg
CA375314251
NM_001136114.2:c.1516G>C