ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580161940
Gene: PIEZO1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2428603
ClinVar RCV Id:
RCV003120204
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136336.2:p.Leu2118Gln
CA397083472
NM_001142864.4:c.6353T>A