ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA139022
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
46713
ClinVar RCV Id:
RCV000039983
RCV000248207
RCV000284280
RCV000278120
RCV000337890
RCV000331984
RCV000372590
RCV000373899
RCV000755421
RCV000770071
RCV001529703
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243779.1:p.Ser7409Leu
CA139019
NM_001256850.1:c.22226C>T