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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:
PA1139698324
Gene: MPZ
HGNC
NCBI
Linked Data
ClinVar Variation Id:
836612
ClinVar RCV Id:
RCV001037786
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001302420.1:p.Phe147Cys
CA343348179
NM_001315491.2:c.440T>G