ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916037773
Gene: PAH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000088727
RCV001543661
ClinVar Variation:
102496
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Gly352Arg
CA229307
NM_001354304.2:c.1054G>C