ClinGen Allele Registry
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Canonical Allele Identifier:
PA916037830
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
577
ClinVar RCV Id:
RCV000000607
RCV000078507
RCV002512607
RCV002287314
RCV003415607
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Arg408Trp
CA251523
NM_001354304.2:c.1222C>T