ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826454126
Gene: TRPV3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000172846
ClinVar Variation:
192257
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245134.1:p.Gln580Pro
CA200136
NM_001258205.2:c.1739A>C