ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916037798
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
628
ClinVar RCV Id:
RCV000000660
RCV000078502
RCV000150077
RCV000850463
RCV001280537
RCV003390629
RCV003258654
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Thr380Met
CA114369
NM_001354304.2:c.1139C>T