ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA229877
Gene: PAH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000089178
RCV000587503
ClinVar Variation:
102913
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Thr323del
CA229876
NM_000277.3:c.967_969del