ClinGen Allele Registry
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Canonical Allele Identifier:
PA105237
Gene: PAH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
108311
ClinVar RCV:
RCV000088811
RCV001380994
ClinVar Variation:
102575
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Arg413Ser
CA229411
NM_000277.3:c.1237C>A