ClinGen Allele Registry
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Canonical Allele Identifier:
PA916037725
Gene: PAH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
15655
ClinVar RCV:
RCV000000647
RCV000089177
RCV000675108
RCV002251845
ClinVar Variation:
616
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Ala322Gly
CA114363
NM_001354304.2:c.965C>G