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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:
PA2741999155
Gene: MMAB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2954625
ClinVar RCV Id:
RCV003815824
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_443077.1:p.Arg186Pro
CA386636903
NM_052845.4:c.557G>C