ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA229680
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000089026
RCV001381395
ClinVar Variation:
102775
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Asp222Gly
CA229679
NM_000277.3:c.665A>G