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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:
PA343896
Gene: MPZ
HGNC
NCBI
Linked Data
ClinVar Variation Id:
41016
ClinVar RCV Id:
RCV000033913
RCV000789424
RCV003581567
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000521.2:p.His81Tyr
CA343894
NM_000530.7:c.241C>T