ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916037692
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
92751
ClinVar RCV Id:
RCV000078536
RCV000150084
RCV000590551
RCV001267463
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Ala300Ser
CA273108
NM_001354304.2:c.898G>T