ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104729
Gene: PIEZO1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002307467
ClinVar Variation:
242668
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136336.2:p.Ala2020Val
CA082756
NM_001142864.4:c.6059C>T
CA082763
NM_001142864.4:c.[6059C>T;3350C>T]