ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916078401
Gene: TRPV4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4997
ClinVar RCV Id:
RCV000005286
RCV000202518
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_671737.1:p.Ile331Phe
CA117174
NM_147204.2:c.991A>T