ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA181815
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
178217
ClinVar RCV Id:
RCV000154951
RCV000209622
RCV000415667
RCV000415702
RCV000725365
RCV000769013
RCV000621229
RCV001085058
RCV001130785
RCV001130087
RCV001130088
RCV001130089
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243779.1:p.Pro13120Ser
CA181813
NM_001256850.1:c.39358C>T