ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA105397
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
102546
ClinVar RCV Id:
RCV000088780
RCV001789755
RCV003323399
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Asp394Ala
CA229372
NM_000277.3:c.1181A>C