ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA105003
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
92731
ClinVar RCV Id:
RCV000078506
RCV000150075
RCV000622360
RCV003915048
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Ala403Val
CA273106
NM_000277.3:c.1208C>T