ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA229582
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000088949
RCV000672775
ClinVar Variation:
102701
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Ala165Pro
CA229581
NM_000277.3:c.493G>C