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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:
PA101607
Gene: MPZ
HGNC
NCBI
Linked Data
ClinVar Variation Id:
637331
ClinVar RCV Id:
RCV000789451
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000521.2:p.Asp134Gly
CA343348658
NM_000530.7:c.401A>G