ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573074823
Gene: PIEZO2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
235234
ClinVar RCV Id:
RCV000224173
RCV002485446
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365112.1:p.Ser1314Phe
CA8892480
NM_001378183.1:c.3941C>T