ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA251536
Gene: PAH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000000635
RCV000078518
ClinVar Variation:
604
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Ile95del
CA251535
NM_000277.3:c.284_286del