ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA105416
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
617
ClinVar RCV Id:
RCV000000648
RCV000088815
RCV000401074
RCV003415609
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Asp415Asn
CA114364
NM_000277.3:c.1243G>A