ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA105728
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
102482
ClinVar RCV Id:
RCV000088713
RCV000674226
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Gly344Val
CA229290
NM_000277.3:c.1031G>T