ClinGen Allele Registry
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Canonical Allele Identifier:
PA916037525
Gene: PAH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
108491
ClinVar RCV:
RCV000089004
RCV001543658
ClinVar Variation:
102755
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Cys203Trp
CA229647
NM_001354304.2:c.609C>G