ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830286248
Gene: TRPV4
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000202487
ClinVar Variation:
126467
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_671737.1:p.Tyr531Cys
CA347734
NM_147204.2:c.1592A>G