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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:
PA2499247782
Gene: MPZ
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1014376
ClinVar RCV Id:
RCV001313103
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001302420.1:p.Asn122Asp
CA343349045
NM_001315491.2:c.364A>G