ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830202957
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
203051
ClinVar RCV Id:
RCV000727859
RCV001085795
RCV004525889
RCV004539727
RCV002381616
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Ala30748Thr
CA311091
NM_133378.4:c.92242G>A