ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA139181
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
46782
ClinVar RCV Id:
RCV000040052
RCV000226309
RCV000725012
RCV001293146
RCV004528205
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Thr7599Met
CA139179
NM_133378.4:c.22796C>T