ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA105743
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
629
ClinVar RCV Id:
RCV000000661
RCV000088836
RCV002512613
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Gly46Ser
CA229439
NM_000277.3:c.136G>A