ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA248650
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
46991
ClinVar RCV Id:
RCV000040261
RCV000118756
RCV000282960
RCV000385022
RCV000378515
RCV000621910
RCV000986939
RCV000767850
RCV001085279
RCV004541155
RCV003149647
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Ala12632Gly
CA248648
NM_133378.4:c.37895C>G