ClinGen Allele Registry
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Canonical Allele Identifier:
PA3082956316
Gene: PIEZO1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136336.2:p.Thr2127Arg
CA397083250
NM_001142864.4:c.6380C>G