ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA101975
Gene: UROS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000003956
RCV003480019
ClinVar Variation:
3758
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000366.1:p.Val82Phe
CA340120
NM_000375.3:c.244G>T