ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA283517
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
47152
ClinVar RCV Id:
RCV000040422
RCV000251749
RCV000272566
RCV000287679
RCV000318624
RCV000327585
RCV000375581
RCV000993461
RCV001513456
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Pro17294Leu
CA283515
NM_133378.4:c.51881C>T