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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:
PA2827715982
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
538722
ClinVar RCV Id:
RCV000648158
RCV000733057
RCV004544878
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340127.2:p.Arg412Cys
CA5293658
NM_001353198.2:c.1234C>T