ClinGen Allele Registry
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Canonical Allele Identifier:
PA106369
Gene: PAH
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000268.1:p.Pro281Leu
NM_000277.3:c.[837del;839A>G;841C>A;843du...
NM_000277.3:c.[837del;839A>G;841C>G;843du...
NM_000277.3:c.842C>T