ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA347715
Gene: TRPV4
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000202461
ClinVar Variation:
126465
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_067638.3:p.Leu523dup
CA347712
NM_021625.5:c.1566_1568dup