ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139692869
Gene: PIEZO1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001136336.2:p.Leu939Met
NM_001142864.4:c.2815C>A