ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA139796
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
47024
ClinVar RCV Id:
RCV000040294
RCV000172666
RCV000244085
RCV000278356
RCV000335718
RCV000284453
RCV000337051
RCV000406708
RCV000768998
RCV001081356
RCV000852850
RCV001358658
RCV004528209
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001254479.2:p.Pro16243Ser
CA139792
NM_001267550.2:c.48727C>T