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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:
PA916021475
Gene: MPZ
HGNC
NCBI
Linked Data
ClinVar Variation Id:
578468
ClinVar RCV Id:
RCV000701482
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001302420.1:p.Pro133Ala
CA343348711
NM_001315491.2:c.397C>G