ClinGen Allele Registry
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Canonical Allele Identifier:
PA183497
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000155789
RCV000184979
RCV000249201
RCV000769879
RCV001080345
RCV004535000
ClinVar Variation:
179010
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Ala27980Val
CA183496
NM_133378.4:c.83939C>T