ClinGen Allele Registry
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Canonical Allele Identifier:
PA916037857
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000088834
RCV000632880
RCV003407485
ClinVar Variation:
102595
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Ala447Asp
CA229437
NM_001354304.2:c.1340C>A