ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825138243
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
932266
ClinVar RCV Id:
RCV001199997
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Val412Gly
CA16020975
NM_000277.3:c.1235T>G