ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104968
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
102483
ClinVar RCV Id:
RCV000088714
RCV000490440
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Ala345Thr
CA229291
NM_000277.3:c.1033G>A