ClinGen Allele Registry
Allele Registry
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This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit
here
for the production version.
Canonical Allele Identifier:
PA283552
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000040448
RCV000234344
RCV000253812
RCV000265281
RCV000310017
RCV000320433
RCV000364649
RCV000379869
RCV000769145
RCV001528607
ClinVar Variation:
47178
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001254479.2:p.Ser181Asn
CA283548
NM_001267550.2:c.542G>A