ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580161640
Gene: PIEZO1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2045538
ClinVar RCV Id:
RCV002908711
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136336.2:p.Glu750Gln
CA8232832
NM_001142864.4:c.2248G>C