ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA229749
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
102827
ClinVar RCV Id:
RCV000089084
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Gly257Ser
CA229748
NM_000277.3:c.769G>A