ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139741926
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
872776
ClinVar RCV Id:
RCV001093427
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Ala49Asp
CA386302329
NM_001354304.2:c.146C>A