ClinGen Allele Registry
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Canonical Allele Identifier:
PA916037763
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
102485
ClinVar RCV Id:
RCV000088716
ClinVar Variation Id:
102486
ClinVar RCV Id:
RCV000088717
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Gly346Arg
CA229292
NM_001354304.2:c.1036G>A
CA229294
NM_001354304.2:c.1036G>C