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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:
PA155369
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
130406
ClinVar RCV Id:
RCV000118446
RCV000352005
RCV000404563
RCV000710239
RCV001080066
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_892006.3:p.Asp4703Asn
CA155367
NM_182961.4:c.14107G>A