ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA140938
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
47416
ClinVar RCV Id:
RCV000040686
RCV000267329
RCV000327142
RCV000363058
RCV000362027
RCV000302688
RCV000724925
RCV001427304
RCV001798184
RCV002345320
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Ala24996Val
CA140936
NM_133378.4:c.74987C>T