ClinGen Allele Registry
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Canonical Allele Identifier:
PA229754
Gene: PAH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
108566
ClinVar RCV:
RCV000089087
RCV000668413
ClinVar Variation:
102830
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Gly257Val
CA229753
NM_000277.3:c.770G>T