ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA141763
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
47714
ClinVar RCV Id:
RCV000040983
RCV000764292
RCV001129058
RCV001129059
RCV001136026
RCV001136027
RCV001136028
RCV001219380
RCV001548379
RCV002415483
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Ser33045Ala
CA141761
NM_133378.4:c.99133T>G