ClinGen Allele Registry
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Canonical Allele Identifier:
PA105785
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
102715
ClinVar RCV Id:
RCV000088963
RCV001048510
ClinVar Variation Id:
944625
ClinVar RCV Id:
RCV001215065
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.His170Gln
CA229597
NM_000277.3:c.510T>A
CA6748900
NM_000277.3:c.510T>G