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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:
PA2741857942
Gene: MPZ
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2704624
ClinVar RCV Id:
RCV003582315
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001302420.1:p.Thr124Ser
CA343348982
NM_001315491.2:c.370A>T