ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA138794
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
46625
ClinVar RCV Id:
RCV000039895
RCV000205655
RCV000852907
RCV000725312
RCV001133898
RCV001133899
RCV001133900
RCV001130952
RCV001133901
RCV001798130
RCV004534857
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243779.1:p.Leu5425Phe
CA138791
NM_001256850.1:c.16273C>T