ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA105135
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000089078
RCV000674327
ClinVar Variation:
102823
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Arg252Gly
CA229742
NM_000277.3:c.754C>G