ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA178931
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
166133
ClinVar RCV Id:
RCV000152385
RCV000172372
RCV000242706
RCV000265162
RCV000268918
RCV000320266
RCV000363523
RCV000328537
RCV001085700
RCV001170857
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Val8259Ile
CA178930
NM_133378.4:c.24775G>A