ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830230857
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
283986
ClinVar RCV Id:
RCV000537307
RCV000513491
RCV000617967
RCV000770108
RCV002244732
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597681.4:p.Asn4250Ser
CA2002605
NM_133437.4:c.12749A>G