ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826116744
Gene: TRPV4
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000202498
ClinVar Variation:
126471
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001170902.1:p.Ile570Met
CA347750
NM_001177431.1:c.1710C>G