ClinGen Allele Registry
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Canonical Allele Identifier:
PA181916
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
178250
ClinVar RCV Id:
RCV000154990
RCV000172696
RCV000852904
RCV001081353
RCV001130672
RCV001130673
RCV001133630
RCV001133631
RCV001133632
RCV004544429
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Lys4865Glu
CA181915
NM_133378.4:c.14593A>G