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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:
PA916021531
Gene: MPZ
HGNC
NCBI
Linked Data
ClinVar Variation Id:
41024
ClinVar RCV Id:
RCV000033921
RCV000700463
RCV000789431
RCV002362608
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001302420.1:p.Asp224Tyr
CA343909
NM_001315491.2:c.670G>T