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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:
PA2826956209
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
95187
ClinVar RCV Id:
RCV000081194
RCV000202529
RCV000224642
RCV001081987
RCV000716944
RCV002498425
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001303266.1:p.Glu304Lys
CA211306
NM_001316337.2:c.910G>A