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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:
PA916021470
Gene: MPZ
HGNC
NCBI
Linked Data
ClinVar Variation Id:
637355
ClinVar RCV Id:
RCV000789482
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001302420.1:p.Pro132Leu
CA343348718
NM_001315491.2:c.395C>T